LIS2
MCID: LSS006
MIFTS: 59

Lissencephaly 2 (LIS2)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Lissencephaly 2

MalaCards integrated aliases for Lissencephaly 2:

Name: Lissencephaly 2 57 11 19 42 73 75
Norman-Roberts Syndrome 57 11 42 75 73 28 5 14
Lissencephaly Syndrome, Norman-Roberts Type 57 11 42 58 12 71
Lis2 57 19 42 73
Lissencephaly with Cerebellar Hypoplasia 42 58 73
Lch 42 58 73
Lissencephaly Syndrome Norman-Roberts Type 19 73
Norman Roberts Lissencephaly Syndrome 19 43
Lissencephaly 3 42 71
Norman-Roberts Lissencephaly Syndrome 75
Cobblestone Lissencephaly 71
Microlissencephaly Type a 58
Lissencephaly, Type 2 38
Lis3 42

Characteristics:


Inheritance:

Lissencephaly 2: Autosomal recessive 57
Lissencephaly Syndrome, Norman-Roberts Type: Autosomal recessive 58

Age Of Onset:

Lissencephaly Syndrome, Norman-Roberts Type: Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Lissencephaly 2

MedlinePlus Genetics: 42 Lissencephaly with cerebellar hypoplasia (LCH) affects brain development, resulting in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. In addition, the part of the brain that coordinates movement is unusually small and underdeveloped (cerebellar hypoplasia). Other parts of the brain are also often underdeveloped in LCH, including the hippocampus, which plays a role in learning and memory, and the part of the brain that is connected to the spinal cord (the brainstem).Individuals with LCH have moderate to severe intellectual disability and delayed development. They have few or no communication skills, extremely poor muscle tone (hypotonia), problems with coordination and balance (ataxia), and difficulty sitting or standing without support. Most affected children experience recurrent seizures (epilepsy) that begin within the first months of life. Some affected individuals have nearsightedness (myopia), involuntary eye movements (nystagmus), or puffiness or swelling caused by a buildup of fluids in the body's tissues (lymphedema).

MalaCards based summary: Lissencephaly 2, also known as norman-roberts syndrome, is related to lissencephaly 3 and lissencephaly, x-linked, 2, and has symptoms including ataxia and seizures. An important gene associated with Lissencephaly 2 is RELN (Reelin), and among its related pathways/superpathways are Cell Cycle, Mitotic and Loss of Nlp from mitotic centrosomes. Affiliated tissues include brain, spinal cord and cerebellum, and related phenotypes are intellectual disability and hypertelorism

Orphanet 58 Lissencephaly with cerebellar hypoplasia: Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F.

Lissencephaly syndrome, norman-roberts type: Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.

GARD: 19 Lissencephaly 2 is an inherited condition characterized by classical lissencephaly in association with certain abnormalities of the skull and facial (craniofacial) region, such as a low, sloping forehead; abnormal prominence of the back portion of the head (occiput); a broad, prominent nasal bridge; and widely set eyes (ocular hypertelorism). Additional symptoms and findings typically include severe or profound intellectual disability, seizures, abnormally increased muscle tone (hypertonia), exaggerated reflexes (hyperreflexia), and severe growth failure. This condition is inherited in an autosomal recessive fashion. Genetic changes in the RELN gene have been identified in some affected individuals.

UniProtKB/Swiss-Prot: 73 A classic type lissencephaly associated with ataxia, intellectual disability, seizures and abnormalities of the cerebellum, hippocampus and brainstem.

Disease Ontology: 11 A lissencephaly that has material basis in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22.

Wikipedia: 75 Norman-Roberts syndrome is a rare form of microlissencephaly caused by a mutation in the RELN gene. A... more...

More information from OMIM: 257320 PS607432

Related Diseases for Lissencephaly 2

Diseases in the Lissencephaly family:

Lissencephaly 2 Lissencephaly 1
Lissencephaly 3 Lissencephaly 4
Lissencephaly 5 Lissencephaly 8
Lissencephaly 10 Lissencephaly 6

Diseases related to Lissencephaly 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 191)
# Related Disease Score Top Affiliating Genes
1 lissencephaly 3 32.5 TUBA1A PAFAH1B1 CENPJ
2 lissencephaly, x-linked, 2 32.3 VLDLR TUBB2B TUBA1A RELN PAFAH1B1
3 cobblestone lissencephaly 31.6 RXYLT1 POMT2 POMGNT1 FKTN
4 congenital muscular dystrophy-dystroglycanopathy type a 31.6 RXYLT1 POMT2 POMGNT1 FKTN
5 epilepsy, familial temporal lobe, 7 30.6 SLC26A5-AS1 RELN
6 lissencephaly 4 30.5 PAFAH1B1 NDE1
7 lissencephaly 7 with cerebellar hypoplasia 30.5 TUBA1A RELN PAFAH1B1
8 neuronal migration disorders 30.4 WDR62 TUBA1A SLC26A5-AS1 RELN
9 lissencephaly 1 30.2 TUBA1A RELN PAFAH1B1 NDE1
10 tubulinopathy 30.0 WDR62 TUBG1 TUBB2B TUBA1A RELN PAFAH1B1
11 cerebellar hypoplasia 30.0 VLDLR RELN PAFAH1B1 LRP8
12 muscular dystrophy, congenital, lmna-related 29.7 RXYLT1 POMT2 POMGNT1 FKTN
13 microcephaly 29.5 WDR62 TUBG1 TUBA1A RNU4ATAC POMGNT1 NDE1
14 miller-dieker lissencephaly syndrome 29.4 WDR62 VLDLR TUBG1 TUBB2B TUBA1A RELN
15 microlissencephaly 29.3 WDR62 TUBG1 TUBB2B TUBA1A RELN PAFAH1B1
16 lissencephaly 27.9 WDR62 VLDLR TUBG1 TUBB2B TUBA1A SLC26A5-AS1
17 langerhans cell histiocytosis 11.7
18 lissencephaly with cerebellar hypoplasia type f 11.6
19 lissencephaly with cerebellar hypoplasia type e 11.6
20 lissencephaly with cerebellar hypoplasia type b 11.6
21 lissencephaly with cerebellar hypoplasia type a 11.6
22 lissencephaly with cerebellar hypoplasia type d 11.6
23 lissencephaly with cerebellar hypoplasia type c 11.6
24 leydig cell hypoplasia 11.6
25 lissencephaly 5 11.3
26 histiocytosis 11.2
27 letterer-siwe disease 11.1
28 leydig cell hypoplasia, type i 10.9
29 roberts-sc phocomelia syndrome 10.5
30 tubulinopathy-associated dysgyria 10.3 TUBB2B TUBA1A
31 central diabetes insipidus 10.3
32 diabetes insipidus 10.3
33 corpus callosum, agenesis of 10.3
34 lissencephaly 10 10.3 TUBA1A RELN PAFAH1B1
35 hypomelanosis of ito 10.3 TUBA1A PAFAH1B1
36 bilateral frontal polymicrogyria 10.2 RELN POMGNT1
37 spinocerebellar ataxia 37 10.2 VLDLR RELN LRP8
38 polymicrogyria, bilateral frontoparietal 10.2 TUBB2B TUBA1A RELN
39 chromosome 15q11.2 deletion syndrome 10.2 TUBG1 PAFAH1B1
40 muscular dystrophy, congenital, 1b 10.2 RXYLT1 FKTN
41 leukodystrophy, hypomyelinating, 6 10.2 TUBB4B TUBB2B TUBA1A
42 muscular dystrophy-dystroglycanopathy , type c, 7 10.2 RXYLT1 FKTN
43 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities 10.1 WDR62 CEP152
44 congenital muscular dystrophy with cerebellar involvement 10.1 POMT2 POMGNT1
45 bilateral generalized polymicrogyria 10.1 WDR62 TUBB2B RXYLT1
46 patent foramen ovale 10.1
47 heart septal defect 10.1
48 atrial heart septal defect 10.1
49 colpocephaly 10.1
50 hypertonia 10.1

Graphical network of the top 20 diseases related to Lissencephaly 2:



Diseases related to Lissencephaly 2

Symptoms & Phenotypes for Lissencephaly 2

Human phenotypes related to Lissencephaly 2:

58 30 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001249
2 hypertelorism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000316
3 abnormal facial shape 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001999
4 4-layered lissencephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006818
5 microlissencephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0045028
6 primary microcephaly 30 Hallmark (90%) HP:0011451
7 seizure 58 30 Frequent (33%) Frequent (79-30%)
HP:0001250
8 wide nasal bridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0000431
9 prominent occiput 58 30 Frequent (33%) Frequent (79-30%)
HP:0000269
10 intrauterine growth retardation 58 30 Frequent (33%) Frequent (79-30%)
HP:0001511
11 low-set ears 58 30 Frequent (33%) Frequent (79-30%)
HP:0000369
12 microretrognathia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000308
13 severe global developmental delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0011344
14 profound global developmental delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0012736
15 wide nose 58 30 Frequent (33%) Frequent (79-30%)
HP:0000445
16 sloping forehead 58 30 Frequent (33%) Frequent (79-30%)
HP:0000340
17 feeding difficulties 58 30 Frequent (33%) Frequent (79-30%)
HP:0011968
18 narrow forehead 58 30 Frequent (33%) Frequent (79-30%)
HP:0000341
19 abnormal muscle tone 58 30 Frequent (33%) Frequent (79-30%)
HP:0003808
20 small forehead 58 30 Frequent (33%) Frequent (79-30%)
HP:0000350
21 agenesis of corpus callosum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001274
22 dysphagia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002015
23 cerebral calcification 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002514
24 dolichocephaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000268
25 adducted thumb 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001181
26 cerebellar atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001272
27 rocker bottom foot 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001838
28 respiratory distress 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002098
29 hypoplasia of the corpus callosum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002079
30 abnormal retinal morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000479
31 patent foramen ovale 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001655
32 hypoplastic spleen 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006270
33 hypotonia 30 Very rare (1%) HP:0001252
34 global developmental delay 30 Very rare (1%) HP:0001263
35 microcephaly 30 HP:0000252
36 lymphedema 30 HP:0001004
37 atrial septal defect 58 Occasional (29-5%)
38 prominent nasal bridge 30 HP:0000426
39 cerebellar hypoplasia 30 HP:0001321
40 abnormality of neuronal migration 58 Occasional (29-5%)
41 abnormality of calvarial morphology 58 Frequent (79-30%)
42 generalized-onset seizure 30 HP:0002197
43 hypoplasia of the pons 30 HP:0012110
44 congenital microcephaly 58 Very frequent (99-80%)
45 thick cerebral cortex 30 HP:0006891

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
H E E N T:
microcephaly
prominent nasal bridge
low, sloping forehead

Lab:
normal chromosomes

Neuro:
thick cerebral cortex
lissencephaly, type i

Clinical features from OMIM®:

257320 (Updated 08-Dec-2022)

UMLS symptoms related to Lissencephaly 2:


ataxia; seizures

MGI Mouse Phenotypes related to Lissencephaly 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.13 CENPJ CEP152 FKTN KATNB1 LRP8 NDE1
2 cellular MP:0005384 9.83 CENPJ CEP152 FKTN KATNB1 LRP8 NDE1
3 embryo MP:0005380 9.76 CENPJ CEP152 FKTN KATNB1 NDE1 PAFAH1B1
4 mortality/aging MP:0010768 9.47 CENPJ FKTN KATNB1 LRP8 PAFAH1B1 POMGNT1

Drugs & Therapeutics for Lissencephaly 2

Search Clinical Trials, NIH Clinical Center for Lissencephaly 2

Cochrane evidence based reviews: norman roberts lissencephaly syndrome

Genetic Tests for Lissencephaly 2

Genetic tests related to Lissencephaly 2:

# Genetic test Affiliating Genes
1 Norman-Roberts Syndrome 28 RELN

Anatomical Context for Lissencephaly 2

Organs/tissues related to Lissencephaly 2:

MalaCards : Brain, Spinal Cord, Cerebellum, Eye, Spleen, Cortex, Pons
ODiseA: Brain

Publications for Lissencephaly 2

Articles related to Lissencephaly 2:

(show top 50) (show all 61)
# Title Authors PMID Year
1
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. 62 57 5
10973257 2000
2
A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema. 57 5
7682675 1993
3
Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy. 62 5
26046367 2015
4
Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation. 62 57
17431900 2007
5
Report of two Turkish infants with Norman-Roberts syndrome. 62 57
15083694 2004
6
Norman-Roberts syndrome: clinical and molecular studies. 62 57
8368261 1993
7
Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly. 62 57
6476009 1984
8
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield. 5
28454995 2017
9
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. 5
25640679 2015
10
Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations. 5
17124408 2006
11
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
12
Lissencephaly. 57
175907 1976
13
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders. 62
35769015 2022
14
Short communication: In vitro pilot study: Are monolithic 3Y-TZP zirconia crowns too strong for titanium Implants? 62
33662055 2022
15
A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene. 62
34917359 2021
16
The Reeler Mouse: A Translational Model of Human Neurological Conditions, or Simply a Good Tool for Better Understanding Neurodevelopment? 62
31805691 2019
17
Endoscopic-Assisted (Through a Mini Craniotomy) Corpus Callosotomy Combined With Anterior, Hippocampal, and Posterior Commissurotomy in Lennox-Gastaut Syndrome: A Pilot Study to Establish Its Safety and Efficacy. 62
26474092 2016
18
Prenatal Diagnosis of Lissencephaly Type 2 using Three-dimensional Ultrasound and Fetal MRI: Case Report and Review of the Literature. 62
27088705 2016
19
RELN Mutations in Autism Spectrum Disorder. 62
27064498 2016
20
Endoscopic epilepsy surgery: Emergence of a new procedure. 62
26238894 2015
21
A case of Norman-Roberts syndrome identified from postnatal diagnosis of microlissencephaly. 62
25927602 2015
22
Erratum to: Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. 62
25609191 2015
23
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. 62
25560765 2015
24
Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias. 62
26052266 2015
25
Design and Realization of Integrated Management System for Data Interoperability between Point-of-Care Testing Equipment and Hospital Information System. 62
24175121 2013
26
Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs. 62
23938146 2013
27
Challenges of diagnostic exome sequencing in an inbred founder population. 62
24498604 2013
28
Diffuse malformations of cortical development. 62
23622213 2013
29
Identification of a 31-bp deletion in the RELN gene causing lissencephaly with cerebellar hypoplasia in sheep. 62
24260534 2013
30
Sonographic assessment of normal and abnormal patterns of fetal cerebral lamination. 62
22610990 2012
31
[Analysis of the clinical manifestations and magnetic resonance imaging features of 11 patients with lissencephaly]. 62
21421488 2011
32
TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. 62
20466733 2010
33
Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype. 62
20376468 2010
34
[Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing]. 62
18808783 2008
35
Tigroid pattern of the white matter: a previously unrecognized MR finding in lissencephaly with cerebellar hypoplasia. 62
18521588 2008
36
Clinical and neuroimaging profile of congenital brain malformations in children with spastic cerebral palsy. 62
18467267 2008
37
Location and type of mutation in the LIS1 gene do not predict phenotypic severity. 62
17664403 2007
38
Norman-Roberts syndrome: characterization of the phenotype in early fetal life. 62
17367103 2007
39
The role of RELN in lissencephaly and neuropsychiatric disease. 62
16958033 2007
40
Iterative ACORN as a high throughput tool in structural genomics. 62
17133764 2006
41
Genetic malformations of cortical development. 62
16724181 2006
42
Neuronal migration disorders, genetics, and epileptogenesis. 62
15921228 2005
43
Extreme microcephaly with agyria-pachygyria, partial agenesis of the corpus callosum, and pontocerebellar dysplasia. 62
15794192 2005
44
Genetic malformations of the cerebral cortex and epilepsy. 62
15816977 2005
45
Lissencephaly with agenesis of corpus callosum and rudimentary dysplastic cerebellum: a subtype of lissencephaly with cerebellar hypoplasia. 62
14566414 2004
46
Reelin-immunoreactive neurons, axons, and neuropil in the adult ferret brain: evidence for axonal secretion of reelin in long axonal pathways. 62
12811805 2003
47
Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing. 62
12185771 2002
48
Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing. 62
11749114 2001
49
Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. 62
11748497 2001
50
Persistent reelin-expressing Cajal-Retzius cells in polymicrogyria. 62
11408330 2001

Variations for Lissencephaly 2

ClinVar genetic disease variations for Lissencephaly 2:

5 (show top 50) (show all 1888)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RELN NM_005045.4(RELN):c.5530-1G>A SNV Pathogenic
9084 GRCh37: 7:103198497-103198497
GRCh38: 7:103558050-103558050
2 RELN NM_005045.4:c.6524_6671del DEL Pathogenic
9085 GRCh37:
GRCh38:
3 RELN NM_005045.4(RELN):c.5969+1G>A SNV Pathogenic
225550 rs869320767 GRCh37: 7:103194106-103194106
GRCh38: 7:103553659-103553659
4 RELN NM_005045.4(RELN):c.3215del (p.Asp1072fs) DEL Pathogenic
856842 rs1831725857 GRCh37: 7:103243869-103243869
GRCh38: 7:103603422-103603422
5 RELN NM_005045.4(RELN):c.265del (p.Leu88_Val89insTer) DEL Pathogenic
1323526 GRCh37: 7:103557594-103557594
GRCh38: 7:103917147-103917147
6 RELN NM_005045.4(RELN):c.4510A>T (p.Arg1504Ter) SNV Pathogenic
1371832 GRCh37: 7:103214540-103214540
GRCh38: 7:103574093-103574093
7 RELN NM_005045.4(RELN):c.4639C>T (p.Arg1547Ter) SNV Pathogenic
1355125 GRCh37: 7:103207156-103207156
GRCh38: 7:103566709-103566709
8 RELN NM_005045.4(RELN):c.4904_4905insA (p.Met1635fs) INSERT Pathogenic
1388018 GRCh37: 7:103206702-103206703
GRCh38: 7:103566255-103566256
9 RELN NM_005045.4(RELN):c.3378G>A (p.Trp1126Ter) SNV Pathogenic
1377194 GRCh37: 7:103237064-103237064
GRCh38: 7:103596617-103596617
10 RELN NM_005045.4(RELN):c.6474del (p.Cys2159fs) DEL Pathogenic
1397755 GRCh37: 7:103185620-103185620
GRCh38: 7:103545173-103545173
11 RELN NM_005045.4(RELN):c.8047G>T (p.Glu2683Ter) SNV Pathogenic
1363442 GRCh37: 7:103155704-103155704
GRCh38: 7:103515257-103515257
12 RELN NM_005045.4(RELN):c.2364del (p.Asp789fs) DEL Pathogenic
1447834 GRCh37: 7:103275973-103275973
GRCh38: 7:103635526-103635526
13 SLC26A5-AS1, RELN NM_005045.4(RELN):c.9052C>T (p.Arg3018Ter) SNV Pathogenic
1449115 GRCh37: 7:103137114-103137114
GRCh38: 7:103496667-103496667
14 RELN NM_005045.4(RELN):c.3871C>T (p.Arg1291Ter) SNV Pathogenic
1074036 GRCh37: 7:103234170-103234170
GRCh38: 7:103593723-103593723
15 RELN NM_005045.4(RELN):c.4190del (p.Asn1397fs) DEL Pathogenic
1074751 GRCh37: 7:103216108-103216108
GRCh38: 7:103575661-103575661
16 RELN NM_005045.4(RELN):c.3485dup (p.Ile1163fs) DUP Pathogenic
840300 rs1831540545 GRCh37: 7:103236956-103236957
GRCh38: 7:103596509-103596510
17 RELN NM_005045.4(RELN):c.4449_4450del (p.Tyr1484fs) MICROSAT Pathogenic
1457198 GRCh37: 7:103214600-103214601
GRCh38: 7:103574153-103574154
18 overlap with 5 genes NC_000007.13:g.(?_102937907)_(103629803_?)del DEL Pathogenic
1459935 GRCh37: 7:102937907-103629803
GRCh38:
19 RELN NM_005045.4(RELN):c.6202_6203del (p.Leu2068fs) DEL Pathogenic
955573 rs1830401647 GRCh37: 7:103191613-103191614
GRCh38: 7:103551166-103551167
20 RELN NM_005045.4(RELN):c.2086dup (p.Ser696fs) DUP Pathogenic
859187 rs1832583187 GRCh37: 7:103276898-103276899
GRCh38: 7:103636451-103636452
21 RELN NM_005045.4(RELN):c.5193C>A (p.Tyr1731Ter) SNV Pathogenic
130110 rs587780435 GRCh37: 7:103205742-103205742
GRCh38: 7:103565295-103565295
22 RELN NM_005045.4(RELN):c.5195_5208dup (p.Ile1737fs) DUP Pathogenic
130111 rs587780436 GRCh37: 7:103205726-103205727
GRCh38: 7:103565279-103565280
23 RELN NM_005045.4(RELN):c.7490+1G>A SNV Pathogenic
130112 rs587780437 GRCh37: 7:103163837-103163837
GRCh38: 7:103523390-103523390
24 RELN NM_005045.4(RELN):c.329dup (p.Gly111fs) DUP Pathogenic
212035 rs797045912 GRCh37: 7:103557529-103557530
GRCh38: 7:103917082-103917083
25 RELN NM_005045.4(RELN):c.5587C>T (p.Gln1863Ter) SNV Pathogenic
212041 rs797045915 GRCh37: 7:103198439-103198439
GRCh38: 7:103557992-103557992
26 RELN NM_005045.4(RELN):c.5615-2A>G SNV Likely Pathogenic
1066813 GRCh37: 7:103197608-103197608
GRCh38: 7:103557161-103557161
27 RELN NM_005045.4(RELN):c.2303+1G>A SNV Likely Pathogenic
1066513 GRCh37: 7:103276681-103276681
GRCh38: 7:103636234-103636234
28 RELN NC_000007.14:g.(?_103589576)_(103610827_?)dup DUP Likely Pathogenic
831042 GRCh37: 7:103230023-103251274
GRCh38:
29 RELN NC_000007.13:g.(?_103196019)_103206706del DEL Likely Pathogenic
1067251 GRCh37:
GRCh38:
30 RELN NM_005045.4(RELN):c.4864C>T (p.Arg1622Ter) SNV Likely Pathogenic
1325004 GRCh37: 7:103206743-103206743
GRCh38: 7:103566296-103566296
31 SLC26A5-AS1, RELN NM_005045.4(RELN):c.9841del (p.Ala3281fs) DEL Likely Pathogenic
800880 rs1586472959 GRCh37: 7:103126786-103126786
GRCh38: 7:103486339-103486339
32 RELN NM_005045.4(RELN):c.7180+1G>T SNV Likely Pathogenic
1474142 GRCh37: 7:103179524-103179524
GRCh38: 7:103539077-103539077
33 RELN NM_005045.4(RELN):c.3912+2T>G SNV Likely Pathogenic
1186074 GRCh37: 7:103234127-103234127
GRCh38: 7:103593680-103593680
34 RELN NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu) SNV Conflicting Interpretations Of Pathogenicity
Benign
130126 rs115913736 GRCh37: 7:103205779-103205779
GRCh38: 7:103565332-103565332
35 RELN NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile) SNV Conflicting Interpretations Of Pathogenicity
Benign
167582 rs41275239 GRCh37: 7:103197603-103197603
GRCh38: 7:103557156-103557156
36 RELN NM_005045.4(RELN):c.3651C>G (p.Ile1217Met) SNV Conflicting Interpretations Of Pathogenicity
Likely Benign
95218 rs56342240 GRCh37: 7:103234828-103234828
GRCh38: 7:103594381-103594381
37 RELN NM_005045.4(RELN):c.2446C>T (p.Leu816Phe) SNV Uncertain Significance
Uncertain Significance
95216 rs144653976 GRCh37: 7:103275891-103275891
GRCh38: 7:103635444-103635444
38 RELN NM_005045.4(RELN):c.6925G>A (p.Asp2309Asn) SNV Uncertain Significance
Uncertain Significance
167579 rs138978280 GRCh37: 7:103180649-103180649
GRCh38: 7:103540202-103540202
39 RELN NM_005045.4(RELN):c.5711C>T (p.Thr1904Met) SNV Uncertain Significance
Uncertain Significance
Uncertain Significance
95223 rs114190729 GRCh37: 7:103197510-103197510
GRCh38: 7:103557063-103557063
40 SLC26A5-AS1, RELN NM_005045.4(RELN):c.10016T>C (p.Met3339Thr) SNV Uncertain Significance
167574 rs150638029 GRCh37: 7:103124265-103124265
GRCh38: 7:103483818-103483818
41 RELN NM_005045.4(RELN):c.4337A>G (p.Asn1446Ser) SNV Uncertain Significance
Uncertain Significance
95220 rs115577014 GRCh37: 7:103214713-103214713
GRCh38: 7:103574266-103574266
42 RELN NM_005045.4(RELN):c.139G>A (p.Glu47Lys) SNV Uncertain Significance
Uncertain Significance
Uncertain Significance
95211 rs139648092 GRCh37: 7:103629665-103629665
GRCh38: 7:103989218-103989218
43 RELN NM_005045.4(RELN):c.6647G>A (p.Arg2216Gln) SNV Uncertain Significance
Uncertain Significance
Uncertain Significance
95226 rs200010849 GRCh37: 7:103183202-103183202
GRCh38: 7:103542755-103542755
44 RELN NM_005045.4(RELN):c.6193G>A (p.Val2065Ile) SNV Uncertain Significance
Uncertain Significance
Uncertain Significance
167580 rs201627577 GRCh37: 7:103191623-103191623
GRCh38: 7:103551176-103551176
45 SLC26A5-AS1, RELN NM_005045.4(RELN):c.9329G>A (p.Arg3110Gln) SNV Uncertain Significance
167576 rs368572382 GRCh37: 7:103136210-103136210
GRCh38: 7:103495763-103495763
46 RELN NM_005045.4(RELN):c.3424T>A (p.Ser1142Thr) SNV Uncertain Significance
Benign
358407 rs145484343 GRCh37: 7:103237018-103237018
GRCh38: 7:103596571-103596571
47 RELN NM_005045.4(RELN):c.5095G>A (p.Glu1699Lys) SNV Uncertain Significance
Uncertain Significance
130124 rs147657490 GRCh37: 7:103205840-103205840
GRCh38: 7:103565393-103565393
48 RELN NM_005045.4(RELN):c.5136G>A (p.Thr1712=) SNV Uncertain Significance
Likely Benign
358397 rs147933593 GRCh37: 7:103205799-103205799
GRCh38: 7:103565352-103565352
49 RELN NM_005045.4(RELN):c.5108C>G (p.Pro1703Arg) SNV Uncertain Significance
Benign
130125 rs2229860 GRCh37: 7:103205827-103205827
GRCh38: 7:103565380-103565380
50 SLC26A5-AS1, RELN NM_005045.4(RELN):c.8430C>A (p.Phe2810Leu) SNV Uncertain Significance
1713391 GRCh37: 7:103143522-103143522
GRCh38: 7:103503075-103503075

Expression for Lissencephaly 2

Search GEO for disease gene expression data for Lissencephaly 2.

Pathways for Lissencephaly 2

Pathways related to Lissencephaly 2 according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.3 TUBG1 TUBB4B TUBB2B TUBA1A PAFAH1B1 NDE1
2
Show member pathways
13 CENPJ CEP152 NDE1 PAFAH1B1 TUBA1A TUBB2B
3
Show member pathways
12.81 TUBG1 TUBB4B TUBB2B TUBA1A PAFAH1B1 NDE1
4
Show member pathways
12.75 TUBB4B TUBB2B TUBA1A PAFAH1B1 NDE1
5
Show member pathways
12.29 TUBG1 TUBB4B TUBB2B TUBA1A PAFAH1B1
6
Show member pathways
11.92 TUBG1 TUBB4B TUBB2B TUBA1A PAFAH1B1 NDE1
7
Show member pathways
11.84 TUBB4B TUBB2B TUBA1A
8 11.75 VLDLR RELN LRP8
9 11.73 VLDLR RELN LRP8
10 11.38 VLDLR RELN PAFAH1B1 LRP8
11 11.37 TUBB4B TUBB2B TUBA1A
12 10.9 VLDLR RELN PAFAH1B1 LRP8
13 10.7 VLDLR RELN PAFAH1B1 LRP8
14
Show member pathways
10.45 RXYLT1 FKTN
15 10.13 VLDLR RELN

GO Terms for Lissencephaly 2

Cellular components related to Lissencephaly 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 10.17 WDR62 TUBG1 PAFAH1B1 NDE1 KATNB1 CEP152
2 centriole GO:0005814 10.01 WDR62 TUBG1 CEP152 CENPJ
3 microtubule cytoskeleton GO:0015630 9.96 KATNB1 PAFAH1B1 TUBA1A TUBB2B TUBB4B TUBG1
4 spindle GO:0005819 9.93 TUBG1 PAFAH1B1 NDE1 KATNB1
5 cytoplasmic microtubule GO:0005881 9.91 TUBG1 TUBA1A PAFAH1B1
6 cytoskeleton GO:0005856 9.9 WDR62 TUBG1 TUBB4B TUBB2B TUBA1A PAFAH1B1
7 procentriole replication complex GO:0120099 9.67 CENPJ CEP152
8 microtubule organizing center GO:0005815 9.5 WDR62 TUBG1 PAFAH1B1 NDE1 KATNB1 CEP152
9 microtubule GO:0005874 9.5 TUBG1 TUBB4B TUBB2B TUBA1A PAFAH1B1 NDE1

Biological processes related to Lissencephaly 2 according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 10.26 TUBA1A PAFAH1B1 NDE1 KATNB1 CENPJ
2 mitotic cell cycle GO:0000278 10.16 TUBA1A TUBB2B TUBB4B TUBG1
3 nervous system development GO:0007399 10.15 WDR62 VLDLR TUBB2B PAFAH1B1 NRG3 NDE1
4 microtubule cytoskeleton organization GO:0000226 10.13 TUBG1 TUBB4B TUBB2B TUBA1A PAFAH1B1
5 neuron migration GO:0001764 10.02 TUBB2B TUBA1A RELN PAFAH1B1 NDE1
6 microtubule nucleation GO:0007020 10.01 TUBG1 NDE1 CENPJ
7 hippocampus development GO:0021766 10 RELN PAFAH1B1 LRP8
8 centriole replication GO:0007099 10 WDR62 CEP152 CENPJ
9 positive regulation of dendritic spine morphogenesis GO:0061003 9.99 RELN PAFAH1B1 LRP8
10 positive regulation of protein kinase activity GO:0045860 9.98 VLDLR RELN LRP8
11 protein O-linked glycosylation GO:0006493 9.97 POMT2 POMGNT1 FKTN
12 protein glycosylation GO:0006486 9.95 RXYLT1 POMT2 POMGNT1 FKTN
13 protein O-linked mannosylation GO:0035269 9.95 FKTN POMT2 RXYLT1
14 modulation of chemical synaptic transmission GO:0050804 9.91 TUBB2B RELN PAFAH1B1 NRG3 LRP8
15 interneuron migration GO:1904936 9.88 RELN PAFAH1B1
16 layer formation in cerebral cortex GO:0021819 9.88 RELN PAFAH1B1 LRP8
17 centrosome duplication GO:0051298 9.85 NDE1 CEP152 CENPJ
18 ventral spinal cord development GO:0021517 9.8 LRP8 RELN VLDLR
19 microtubule organizing center organization GO:0031023 9.77 PAFAH1B1 NDE1
20 reelin-mediated signaling pathway GO:0038026 9.76 VLDLR RELN PAFAH1B1 LRP8
21 microtubule-based process GO:0007017 9.56 TUBG1 TUBB4B TUBB2B TUBA1A PAFAH1B1
22 cerebral cortex development GO:0021987 9.32 WDR62 TUBB2B TUBA1A RELN PAFAH1B1 NDE1

Molecular functions related to Lissencephaly 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.56 TUBG1 TUBB4B TUBB2B TUBA1A
2 very-low-density lipoprotein particle receptor activity GO:0030229 9.46 VLDLR LRP8
3 reelin receptor activity GO:0038025 8.92 VLDLR LRP8

Sources for Lissencephaly 2

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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