MCPH2
MCID: MCR222
MIFTS: 44

Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations (MCPH2)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

MalaCards integrated aliases for Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations:

Name: Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations 57 72 13 6
Mcph2 57 12 72
Primary Autosomal Recessive Microcephaly 2 with or Without Cortical Malformations 12 15
Microcephaly, Primary Autosomal Recessive, 2 70

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
variable phenotype, particularly with regard to cortical malformations


HPO:

31
microcephaly 2, primary, autosomal recessive, with or without cortical malformations:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

OMIM® : 57 Microcephaly-2 with or without cortical malformations is an autosomal recessive neurodevelopmental disorder showing phenotypic variability. Classically, primary microcephaly is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations (SD) below the age- and sex-matched population mean, and mental retardation with no other associated malformations and with no apparent etiology (Hofman, 1984). Patients with WDR62 mutations have head circumferences ranging from low-normal to severe (-9.8 SD), and most patients with brain scans have shown various types of cortical malformations. All have delayed psychomotor development; seizures are variable (summary by Yu et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200). (604317) (Updated 05-Apr-2021)

MalaCards based summary : Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations, also known as mcph2, is related to primary microcephaly and microcephaly, and has symptoms including hemiparesis An important gene associated with Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations is WDR62 (WD Repeat Domain 62), and among its related pathways/superpathways are Cell Cycle, Mitotic and Organelle biogenesis and maintenance. Affiliated tissues include brain and cerebellum, and related phenotypes are seizure and intellectual disability

Disease Ontology : 12 A primary autosomal recessive microcephaly that has material basis in homozygous or compound heterozygous mutation in the WDR62 gene on chromosome 19q13.

UniProtKB/Swiss-Prot : 72 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations: A disease characterized by microcephaly, moderate to severe mental retardation, and various type of cortical malformations in most patients. Microcephaly is defined as a head circumference more than 3 standard deviations below the age-related mean. Cortical malformations include pachygyria with cortical thickening, microgyria, lissencephaly, hypoplasia of the corpus callosum, schizencephaly. All affected individuals have delayed psychomotor development. Some patients have seizures.

Related Diseases for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

Diseases related to Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 primary microcephaly 27.6 WDR62 STIL RTTN PHC1 MCPH1 KNL1
2 microcephaly 27.2 ZNF335 WDR62 STIL RTTN PHC1 MCPH1
3 microcephaly 5, primary, autosomal recessive 26.7 ZNF335 WDR62 STIL RTTN PHC1 MCPH1
4 primary autosomal recessive microcephaly 26.4 ZNF335 WDR62 STIL RTTN PHC1 MCPH1
5 miller-dieker lissencephaly syndrome 10.0 WDR62 MCPH1 CDK5RAP2
6 seckel syndrome 5 10.0 MCPH1 CEP152 CENPJ
7 autosomal recessive disease 9.9
8 microcephaly 1, primary, autosomal recessive 9.8 MCPH1 CEP152 CENPJ ASPM
9 seckel syndrome 1 9.8 CNTLN CEP152 CENPJ
10 mirror movements 1 9.8 KNL1 CENPJ
11 microcephaly 19, primary, autosomal recessive 9.8 RTTN CEP152
12 autosomal recessive non-syndromic intellectual disability 9.7 WDR62 STIL MCPH1 CEP152 CDK5RAP2
13 band heterotopia 9.7 WDR62 MCPH1 CENPJ CDK5RAP2 ASPM
14 microcephaly 16, primary, autosomal recessive 9.7 ZNF335 RTTN
15 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 9.7 RTTN ASPM
16 seckel syndrome 2 9.5 MCPH1 CNTLN CEP152 CENPJ CDK5RAP2
17 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities 9.4 ZNF335 STIL RTTN CEP152
18 seckel syndrome 4 9.4 MCPH1 CNTLN CEP152 CENPJ CDK5RAP2 ASPM
19 microcephaly 13, primary, autosomal recessive 9.4 ZNF335 WDR62 RTTN MCPH1 CEP152
20 microcephaly 18, primary, autosomal dominant 9.3 ZNF335 MCPH1 CEP152 CEP135 CENPJ ASPM
21 microcephaly 10, primary, autosomal recessive 9.3 ZNF335 WDR62 PHC1 CEP152 CEP135 CENPJ
22 joubert syndrome 1 9.2 STIL CNTLN CEP152 CEP135 CENPJ CDK5RAP2
23 microcephaly 11, primary, autosomal recessive 9.2 ZNF335 WDR62 PHC1 MCPH1 CEP152 CEP135
24 microcephaly 9, primary, autosomal recessive 9.2 WDR62 STIL MCPH1 KNL1 CEP152 CEP135
25 microcephaly 8, primary, autosomal recessive 9.2 WDR62 STIL MCPH1 KNL1 CEP152 CEP135
26 microcephaly 14, primary, autosomal recessive 9.2 ZNF335 WDR62 STIL RTTN CEP152 CENPJ
27 microcephaly 17, primary, autosomal recessive 9.1 ZNF335 WDR62 STIL MCPH1 CEP152 CENPJ
28 periventricular nodular heterotopia 9.1 WDR62 STIL RTTN MCPH1 CENPJ CDK5RAP2
29 microcephalic osteodysplastic primordial dwarfism, type ii 9.0 STIL MCPH1 CNTLN CEP152 CEP135 CENPJ
30 microcephaly 7, primary, autosomal recessive 8.9 WDR62 STIL MCPH1 KNL1 CEP152 CEP135
31 microcephaly 12, primary, autosomal recessive 8.9 WDR62 STIL PHC1 MCPH1 KNL1 CEP152
32 physical disorder 8.9 WDR62 STIL MCPH1 CNTLN CEP152 CEP135
33 isolated growth hormone deficiency 8.6 WDR62 STIL RTTN CNTLN CEP152 CEP135
34 microcephaly 3, primary, autosomal recessive 8.5 WDR62 STIL RTTN MCPH1 KNL1 CEP152
35 microcephaly 4, primary, autosomal recessive 8.4 ZNF335 WDR62 STIL PHC1 MCPH1 KNL1
36 congenital nervous system abnormality 8.2 ZNF335 WDR62 STIL MCPH1 KNL1 CNTLN
37 isolated growth hormone deficiency, type ia 8.2 WDR62 STIL RTTN MCPH1 KNL1 CNTLN
38 seckel syndrome 7.9 WDR62 STIL RTTN PHC1 MCPH1 KNL1
39 microcephaly 6, primary, autosomal recessive 7.9 ZNF335 WDR62 STIL RTTN MCPH1 KNL1

Graphical network of the top 20 diseases related to Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations:



Diseases related to Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations

Symptoms & Phenotypes for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

Human phenotypes related to Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 seizure 31 frequent (33%) HP:0001250
2 intellectual disability 31 HP:0001249
3 hyperreflexia 31 HP:0001347
4 global developmental delay 31 HP:0001263
5 delayed speech and language development 31 HP:0000750
6 microcephaly 31 HP:0000252
7 decreased fetal movement 31 HP:0001558
8 polymicrogyria 31 HP:0002126
9 pachygyria 31 HP:0001302
10 sloping forehead 31 HP:0000340
11 hypoplasia of the corpus callosum 31 HP:0002079
12 spastic tetraparesis 31 HP:0001285
13 gray matter heterotopia 31 HP:0002282
14 hemiparesis 31 HP:0001269
15 aggressive behavior 31 HP:0000718
16 hyperactivity 31 HP:0000752
17 impulsivity 31 HP:0100710
18 simplified gyral pattern 31 HP:0009879
19 schizencephaly 31 HP:0010636

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
hypertonia
polymicrogyria
pachygyria
lissencephaly
more
Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
impulsivity
aggression
head banging

Head And Neck Head:
microcephaly (-4 to -7 sd)

Head And Neck Face:
sloping forehead
low forehead

Prenatal Manifestations Movement:
decreased fetal movements

Clinical features from OMIM®:

604317 (Updated 05-Apr-2021)

UMLS symptoms related to Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations:


hemiparesis

MGI Mouse Phenotypes related to Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.85 ASPM CDK5RAP2 CENPJ CEP135 KNL1 MCPH1
2 nervous system MP:0003631 9.65 ASPM CDK5RAP2 CENPJ CEP152 KNL1 MCPH1
3 vision/eye MP:0005391 9.23 CDK5RAP2 CENPJ CEP135 KNL1 MCPH1 PHC1

Drugs & Therapeutics for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

Search Clinical Trials , NIH Clinical Center for Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations

Genetic Tests for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

Anatomical Context for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

MalaCards organs/tissues related to Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations:

40
Brain, Cerebellum

Publications for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

Articles related to Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations:

(show all 30)
# Title Authors PMID Year
1
The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2. 61 6 57
10573015 1999
2
Genetic heterogeneity in Pakistani microcephaly families. 6 57
22775483 2013
3
Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria. 57 6
21834044 2011
4
WDR62 is associated with the spindle pole and is mutated in human microcephaly. 57 6
20890279 2010
5
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. 6 57
20890278 2010
6
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. 6 57
20729831 2010
7
Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations. 61 57
21496009 2011
8
A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. 57 61
20978018 2010
9
Genetic heterogeneity in Pakistani microcephaly families revisited. 6
28004384 2017
10
A novel WDR62 mutation causes primary microcephaly in a Pakistani family. 6
23065275 2013
11
A biometric analysis of brain size in micrencephalics. 57
6737015 1984
12
The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical development. 61
31816041 2020
13
The Spindle-Associated Microcephaly Protein, WDR62, Is Required for Neurogenesis and Development of the Hippocampus. 61
33042990 2020
14
A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature. 61
30706430 2019
15
The Role of WD40-Repeat Protein 62 (MCPH2) in Brain Growth: Diverse Molecular and Cellular Mechanisms Required for Cortical Development. 61
28940170 2018
16
A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability. 61
28756000 2018
17
PLK1-mediated phosphorylation of WDR62/MCPH2 ensures proper mitotic spindle orientation. 61
28973348 2017
18
Genetic basis of brain size evolution in cetaceans: insights from adaptive evolution of seven primary microcephaly (MCPH) genes. 61
28851290 2017
19
Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly type 2. 61
27852057 2016
20
The genetic epidemiology of the form of microcephaly ascribed to mutation at the WDR62 locus. 61
27570775 2016
21
Novel splice-site mutation in WDR62 revealed by whole-exome sequencing in a Sudanese family with primary microcephaly. 61
26577670 2016
22
A novel single base pair duplication in WDR62 causes primary microcephaly. 61
25303973 2014
23
Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation. 61
24228726 2013
24
Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly. 61
21961505 2011
25
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. 61
20598275 2010
26
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301772 2009
27
Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene. 61
16673149 2006
28
Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations. 61
15355437 2004
29
Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation. 61
12362027 2002
30
A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34. 61
10677332 2000

Variations for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

ClinVar genetic disease variations for Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations:

6 (show top 50) (show all 193)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WDR62 NM_001083961.2(WDR62):c.4205_4208del (p.Val1402fs) Deletion Pathogenic 40 rs397704721 GRCh37: 19:36595471-36595474
GRCh38: 19:36104569-36104572
2 WDR62 NM_001083961.2(WDR62):c.671G>C (p.Trp224Ser) SNV Pathogenic 42 rs267607176 GRCh37: 19:36558317-36558317
GRCh38: 19:36067415-36067415
3 WDR62 NM_001083961.2(WDR62):c.1408C>T (p.Gln470Ter) SNV Pathogenic 43 rs267607177 GRCh37: 19:36574001-36574001
GRCh38: 19:36083099-36083099
4 WDR62 NM_001083961.2(WDR62):c.3839_3855del (p.Gly1280fs) Deletion Pathogenic 44 rs397704725 GRCh37: 19:36594568-36594584
GRCh38: 19:36103666-36103682
5 WDR62 NM_001083961.2(WDR62):c.1313G>A (p.Arg438His) SNV Pathogenic 31035 rs387907082 GRCh37: 19:36572414-36572414
GRCh38: 19:36081512-36081512
6 WDR62 NM_001083961.2(WDR62):c.4241dup (p.Ser1415fs) Duplication Pathogenic 31036 rs587776899 GRCh37: 19:36595506-36595507
GRCh38: 19:36104604-36104605
7 WDR62 NM_001083961.2(WDR62):c.363del (p.Asp122fs) Deletion Pathogenic 31039 rs587776901 GRCh37: 19:36556890-36556890
GRCh38: 19:36065988-36065988
8 WDR62 NM_001083961.2(WDR62):c.193G>A (p.Val65Met) SNV Pathogenic 31040 rs387907084 GRCh37: 19:36549697-36549697
GRCh38: 19:36058795-36058795
9 WDR62 NM_001083961.2(WDR62):c.2086del (p.Ser696fs) Deletion Pathogenic 31041 rs863223322 GRCh37: 19:36582150-36582150
GRCh38: 19:36091248-36091248
10 WDR62 NM_001083961.2(WDR62):c.2742_2743AG[2] (p.Gln918fs) Microsatellite Pathogenic 31042 rs764201220 GRCh37: 19:36591652-36591653
GRCh38: 19:36100750-36100751
11 WDR62 NM_001083961.2(WDR62):c.2084_2090dup (p.Ser698fs) Duplication Pathogenic 160260 rs587784546 GRCh37: 19:36582150-36582151
GRCh38: 19:36091248-36091249
12 WDR62 NM_001083961.2(WDR62):c.2655C>G (p.Tyr885Ter) SNV Pathogenic 160272 rs587784549 GRCh37: 19:36590435-36590435
GRCh38: 19:36099533-36099533
13 WDR62 NM_001083961.2(WDR62):c.332+1G>A SNV Pathogenic 160282 rs587784553 GRCh37: 19:36550933-36550933
GRCh38: 19:36060031-36060031
14 WDR62 NM_001083961.2(WDR62):c.3514+1G>A SNV Pathogenic 437291 rs199736219 GRCh37: 19:36594110-36594110
GRCh38: 19:36103208-36103208
15 WDR62 NM_001083961.2(WDR62):c.3012_3034dup (p.Pro1012fs) Duplication Pathogenic 437292 rs1555723585 GRCh37: 19:36592602-36592603
GRCh38: 19:36101700-36101701
16 WDR62 NM_001083961.2(WDR62):c.2788C>T (p.Gln930Ter) SNV Pathogenic 694008 rs1599841026 GRCh37: 19:36591698-36591698
GRCh38: 19:36100796-36100796
17 WDR62 NM_001083961.2(WDR62):c.669del (p.Trp224fs) Deletion Pathogenic 818086 rs1599760058 GRCh37: 19:36558315-36558315
GRCh38: 19:36067413-36067413
18 WDR62 NM_001083961.2(WDR62):c.1576G>T (p.Glu526Ter) SNV Pathogenic 976406 GRCh37: 19:36575580-36575580
GRCh38: 19:36084678-36084678
19 WDR62 NM_001083961.2(WDR62):c.2588G>A (p.Arg863His) SNV Pathogenic 977845 GRCh37: 19:36590368-36590368
GRCh38: 19:36099466-36099466
20 WDR62 NM_001083961.2(WDR62):c.3936dup (p.Val1313fs) Duplication Pathogenic 31038 rs587776900 GRCh37: 19:36594660-36594661
GRCh38: 19:36103758-36103759
21 WDR62 NM_001083961.2(WDR62):c.1941C>A (p.Cys647Ter) SNV Pathogenic 280634 rs769688376 GRCh37: 19:36580191-36580191
GRCh38: 19:36089289-36089289
22 WDR62 NM_001083961.2(WDR62):c.1821dup (p.Arg608fs) Duplication Pathogenic 817049 rs1213710245 GRCh37: 19:36579989-36579990
GRCh38: 19:36089087-36089088
23 WDR62 NM_001083961.2(WDR62):c.1531G>A (p.Asp511Asn) SNV Pathogenic 31037 rs387907083 GRCh37: 19:36574124-36574124
GRCh38: 19:36083222-36083222
24 WDR62 NM_001083961.2(WDR62):c.1550+2C>T SNV Pathogenic 1033682 GRCh37: 19:36574145-36574145
GRCh38: 19:36083243-36083243
25 WDR62 NM_001083961.2(WDR62):c.332G>C (p.Arg111Thr) SNV Likely pathogenic 1030118 GRCh37: 19:36550932-36550932
GRCh38: 19:36060030-36060030
26 WDR62 NM_001083961.2(WDR62):c.2486C>T (p.Thr829Ile) SNV Likely pathogenic 977857 GRCh37: 19:36587947-36587947
GRCh38: 19:36097045-36097045
27 WDR62 NM_001083961.2(WDR62):c.1963dup (p.Tyr655fs) Duplication Likely pathogenic 977913 GRCh37: 19:36581350-36581351
GRCh38: 19:36090448-36090449
28 WDR62 NM_001083961.2(WDR62):c.836G>A (p.Cys279Tyr) SNV Likely pathogenic 864869 GRCh37: 19:36558866-36558866
GRCh38: 19:36067964-36067964
29 WDR62 NM_001083961.2(WDR62):c.2584G>A (p.Gly862Ser) SNV Likely pathogenic 437289 rs587784548 GRCh37: 19:36590364-36590364
GRCh38: 19:36099462-36099462
30 WDR62 NM_001083961.2(WDR62):c.1684C>G (p.His562Asp) SNV Likely pathogenic 635183 rs1379578836 GRCh37: 19:36577630-36577630
GRCh38: 19:36086728-36086728
31 WDR62 NM_001083961.2(WDR62):c.883-4_890del Deletion Likely pathogenic 635184 rs1568334868 GRCh37: 19:36562450-36562461
GRCh38: 19:36071548-36071559
32 WDR62 NM_001083961.2(WDR62):c.3348del (p.Phe1117fs) Deletion Likely pathogenic 212603 rs797046109 GRCh37: 19:36593861-36593861
GRCh38: 19:36102959-36102959
33 WDR62 NM_001083961.2(WDR62):c.3335+3A>G SNV Likely pathogenic 160283 rs587784554 GRCh37: 19:36593756-36593756
GRCh38: 19:36102854-36102854
34 WDR62 NM_001083961.2(WDR62):c.359C>A (p.Ser120Tyr) SNV Likely pathogenic 160292 rs587784558 GRCh37: 19:36556886-36556886
GRCh38: 19:36065984-36065984
35 WDR62 NM_001083961.2(WDR62):c.1312C>T (p.Arg438Cys) SNV Likely pathogenic 160246 rs587784542 GRCh37: 19:36572413-36572413
GRCh38: 19:36081511-36081511
36 WDR62 NM_001083961.2(WDR62):c.1480G>A (p.Gly494Arg) SNV Conflicting interpretations of pathogenicity 160249 rs587784543 GRCh37: 19:36574073-36574073
GRCh38: 19:36083171-36083171
37 WDR62 NM_001083961.2(WDR62):c.*5G>A SNV Conflicting interpretations of pathogenicity 160242 rs61740165 GRCh37: 19:36595935-36595935
GRCh38: 19:36105033-36105033
38 WDR62 NM_001083961.2(WDR62):c.1486C>T (p.Arg496Trp) SNV Uncertain significance 160250 rs587784544 GRCh37: 19:36574079-36574079
GRCh38: 19:36083177-36083177
39 WDR62 NM_001083961.2(WDR62):c.1534C>G (p.Arg512Gly) SNV Uncertain significance 160251 rs201993064 GRCh37: 19:36574127-36574127
GRCh38: 19:36083225-36083225
40 WDR62 NM_001083961.2(WDR62):c.1681A>T (p.Ile561Phe) SNV Uncertain significance 160255 rs587784545 GRCh37: 19:36577627-36577627
GRCh38: 19:36086725-36086725
41 WDR62 NM_001083961.2(WDR62):c.1750A>C (p.Thr584Pro) SNV Uncertain significance 160256 rs76456648 GRCh37: 19:36577696-36577696
GRCh38: 19:36086794-36086794
42 WDR62 NM_001083961.2(WDR62):c.2490C>T (p.Asn830=) SNV Uncertain significance 160267 rs587784547 GRCh37: 19:36587951-36587951
GRCh38: 19:36097049-36097049
43 WDR62 NM_001083961.2(WDR62):c.2566C>T (p.Arg856Cys) SNV Uncertain significance 160270 rs370558837 GRCh37: 19:36590346-36590346
GRCh38: 19:36099444-36099444
44 WDR62 NM_001083961.2(WDR62):c.2584G>T (p.Gly862Cys) SNV Uncertain significance 160271 rs587784548 GRCh37: 19:36590364-36590364
GRCh38: 19:36099462-36099462
45 WDR62 NM_001083961.2(WDR62):c.3611G>T (p.Gly1204Val) SNV Uncertain significance 160293 rs587784559 GRCh37: 19:36594341-36594341
GRCh38: 19:36103439-36103439
46 WDR62 NM_001083961.2(WDR62):c.3698C>G (p.Ser1233Cys) SNV Uncertain significance 160296 rs587784560 GRCh37: 19:36594428-36594428
GRCh38: 19:36103526-36103526
47 WDR62 NM_001083961.2(WDR62):c.3948G>A (p.Gln1316=) SNV Uncertain significance 160297 rs4375791 GRCh37: 19:36594678-36594678
GRCh38: 19:36103776-36103776
48 WDR62 NM_001083961.2(WDR62):c.4381T>G (p.Trp1461Gly) SNV Uncertain significance 160303 rs61734910 GRCh37: 19:36595739-36595739
GRCh38: 19:36104837-36104837
49 WDR62 NM_001083961.2(WDR62):c.589G>A (p.Val197Ile) SNV Uncertain significance 160306 rs535488873 GRCh37: 19:36558235-36558235
GRCh38: 19:36067333-36067333
50 WDR62 NM_001083961.2(WDR62):c.82C>G (p.Arg28Gly) SNV Uncertain significance 160307 rs200283315 GRCh37: 19:36545955-36545955
GRCh38: 19:36055053-36055053

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations:

72
# Symbol AA change Variation ID SNP ID
1 WDR62 p.Trp224Ser VAR_063702 rs267607176
2 WDR62 p.Glu526Lys VAR_063703 rs147875659
3 WDR62 p.Val65Met VAR_065843 rs387907084
4 WDR62 p.Arg438His VAR_065844 rs387907082
5 WDR62 p.Asp511Asn VAR_065845 rs387907083

Expression for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

Search GEO for disease gene expression data for Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations.

Pathways for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

Pathways related to Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.26 MCPH1 KNL1 CEP152 CEP135 CENPJ CDK5RAP2
2
Show member pathways
11.98 CEP152 CEP135 CENPJ CDK5RAP2

GO Terms for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

Cellular components related to Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.85 WDR62 STIL RTTN MCPH1 CNTLN CEP152
2 microtubule organizing center GO:0005815 9.73 WDR62 RTTN MCPH1 CEP152 CENPJ CDK5RAP2
3 centrosome GO:0005813 9.61 WDR62 STIL RTTN CNTLN CEP152 CEP135
4 spindle pole GO:0000922 9.5 WDR62 CDK5RAP2 ASPM
5 mitotic spindle pole GO:0097431 9.4 CDK5RAP2 ASPM
6 pericentriolar material GO:0000242 9.37 CEP152 CDK5RAP2
7 centriole GO:0005814 9.17 WDR62 STIL RTTN CNTLN CEP152 CEP135

Biological processes related to Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.72 ZNF335 CDK5RAP2 ASPM
2 G2/M transition of mitotic cell cycle GO:0000086 9.62 CEP152 CEP135 CENPJ CDK5RAP2
3 cerebral cortex development GO:0021987 9.58 WDR62 MCPH1 ASPM
4 ciliary basal body-plasma membrane docking GO:0097711 9.56 CEP152 CEP135 CENPJ CDK5RAP2
5 mitotic spindle organization GO:0007052 9.54 WDR62 STIL
6 establishment of mitotic spindle orientation GO:0000132 9.52 MCPH1 CDK5RAP2
7 positive regulation of neuroblast proliferation GO:0002052 9.51 ZNF335 ASPM
8 protein localization to centrosome GO:0071539 9.49 STIL MCPH1
9 neuronal stem cell population maintenance GO:0097150 9.48 MCPH1 ASPM
10 centrosome duplication GO:0051298 9.46 STIL CEP152
11 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.46 CEP152 CEP135 CENPJ CDK5RAP2
12 regulation of centriole replication GO:0046599 9.43 STIL CENPJ
13 positive regulation of establishment of protein localization GO:1904951 9.37 CEP135 CENPJ
14 centriole-centriole cohesion GO:0010457 9.13 RTTN CNTLN CEP135
15 centriole replication GO:0007099 9.1 WDR62 RTTN CEP152 CEP135 CENPJ CDK5RAP2

Molecular functions related to Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gamma-tubulin binding GO:0043015 8.96 CENPJ CDK5RAP2
2 protein kinase binding GO:0019901 8.92 CNTLN CEP152 CENPJ CDK5RAP2

Sources for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....