NEM2
MCID: NML003
MIFTS: 51

Nemaline Myopathy 2 (NEM2)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Nemaline Myopathy 2

MalaCards integrated aliases for Nemaline Myopathy 2:

Name: Nemaline Myopathy 2 57 12 72 29 6 15 70
Nemaline Myopathy 2, Autosomal Recessive 57 12 13
Nem2 57 12 72
Neb-Related Nemaline Myopathy 72
Myopathy, Nemaline, Type 2 39
Nemaline Myopathy, Type 2 73

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
extraocular muscles are not involved
highly variable severity, ranging from 'typical' to 'severe' disease
slowly progressive or nonprogressive course
many adults with typical form remain ambulatory
death at birth or within first 2 years of life (severe form)


HPO:

31
nemaline myopathy 2:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course infantile onset


Classifications:



Summaries for Nemaline Myopathy 2

OMIM® : 57 Nemaline myopathy-2 is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity from the severe form with perinatal onset and fetal death to milder forms with later onset. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by Lehtokari et al., 2014). For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (161800). Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006). (256030) (Updated 20-May-2021)

MalaCards based summary : Nemaline Myopathy 2, also known as nemaline myopathy 2, autosomal recessive, is related to nemaline myopathy and batten-turner congenital myopathy, and has symptoms including waddling gait, generalized muscle weakness and facial paresis. An important gene associated with Nemaline Myopathy 2 is NEB (Nebulin), and among its related pathways/superpathways are Metabolism of nucleotides and purine nucleotides de novo biosynthesis. Affiliated tissues include skeletal muscle, colon and brain, and related phenotypes are scoliosis and dysphagia

Disease Ontology : 12 A nemaline myopathy that has material basis in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23.

UniProtKB/Swiss-Prot : 72 Nemaline myopathy 2: A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination.

Wikipedia : 73 Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, often hereditary... more...

Related Diseases for Nemaline Myopathy 2

Diseases in the Nemaline Myopathy family:

Nemaline Myopathy 3 Nemaline Myopathy 2
Nemaline Myopathy 5 Nemaline Myopathy 6
Nemaline Myopathy 1 Nemaline Myopathy 4
Nemaline Myopathy 7 Nemaline Myopathy 8
Nemaline Myopathy 9 Nemaline Myopathy 10
Nemaline Myopathy 11, Autosomal Recessive Adult-Onset Nemaline Myopathy
Intermediate Congenital Nemaline Myopathy Severe Congenital Nemaline Myopathy
Congenital Nemaline Myopathy

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

(show all 26)
# Related Disease Score Top Affiliating Genes
1 nemaline myopathy 30.2 RIF1 NEB KLHL41 CFL2
2 batten-turner congenital myopathy 29.1 NEB LMOD3 KLHL41 KLHL40 KBTBD13 CFL2
3 myopathy 29.1 RIF1 NEB MYPN LMOD3 KLHL41 KLHL40
4 dysphagia 10.2 RIF1 NEB
5 endometrium carcinoma in situ 10.2 NME2 NME1-NME2
6 intermediate congenital nemaline myopathy 10.1 NEB KLHL41
7 myopathy, myofibrillar, 4 10.1 NEB MYPN
8 myopathy, spheroid body 10.0 NEB MYPN LMOD3
9 myopathy, myofibrillar, 1 10.0 NEB MYPN
10 nemaline myopathy 7 10.0 KBTBD13 CTPS1 CFL2
11 centronuclear myopathy 10.0 NEB KLHL40 KBTBD13
12 nemaline myopathy 8 9.9 LMOD3 KLHL40 KBTBD13
13 hypotonia 9.9
14 childhood-onset nemaline myopathy 9.9 NEB MYPN KLHL41 KBTBD13
15 myopathy, myofibrillar, 9, with early respiratory failure 9.9 NEB MYPN
16 typical congenital nemaline myopathy 9.9 NEB LMOD3 KLHL41 CFL2
17 nemaline myopathy 11, autosomal recessive 9.9 MYPN LMOD3 KLHL41 KBTBD13
18 severe congenital nemaline myopathy 9.7 NEB LMOD3 KLHL41 KLHL40
19 nemaline myopathy 9 9.7 LMOD3 KLHL41 KLHL40 KBTBD13
20 multiple pterygium syndrome, escobar variant 9.7 NEB LMOD3 KLHL41 KLHL40
21 nemaline myopathy 3 9.7 NEB LMOD3 KLHL41 KLHL40 KBTBD13
22 meier-gorlin syndrome 2 9.6 NXPH2 GTDC1
23 epilepsy, idiopathic generalized 9 9.6 NXPH2 GTDC1
24 congenital fiber-type disproportion 9.5 NEB LMOD3 KLHL41 KLHL40 KBTBD13 CFL2
25 nemaline myopathy 10 9.4 MYPN LMOD3 KLHL41 KLHL40 KBTBD13 CFL2
26 congenital structural myopathy 9.3 NEB MYPN LMOD3 KLHL41 KLHL40 KBTBD13

Graphical network of the top 20 diseases related to Nemaline Myopathy 2:



Diseases related to Nemaline Myopathy 2

Symptoms & Phenotypes for Nemaline Myopathy 2

Human phenotypes related to Nemaline Myopathy 2:

31 (show all 41)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 dysphagia 31 HP:0002015
3 facial palsy 31 HP:0010628
4 high palate 31 HP:0000218
5 hyperlordosis 31 HP:0003307
6 hypertelorism 31 HP:0000316
7 neonatal hypotonia 31 HP:0001319
8 flexion contracture 31 HP:0001371
9 cleft palate 31 HP:0000175
10 low-set ears 31 HP:0000369
11 waddling gait 31 HP:0002515
12 spinal rigidity 31 HP:0003306
13 emg: myopathic abnormalities 31 HP:0003458
14 respiratory insufficiency due to muscle weakness 31 HP:0002747
15 motor delay 31 HP:0001270
16 type 1 muscle fiber predominance 31 HP:0003803
17 nemaline bodies 31 HP:0003798
18 slender build 31 HP:0001533
19 polyhydramnios 31 HP:0001561
20 talipes 31 HP:0001883
21 long philtrum 31 HP:0000343
22 areflexia 31 HP:0001284
23 apnea 31 HP:0002104
24 decreased fetal movement 31 HP:0001558
25 hyporeflexia 31 HP:0001265
26 arthrogryposis multiplex congenita 31 HP:0002804
27 feeding difficulties 31 HP:0011968
28 limb muscle weakness 31 HP:0003690
29 generalized muscle weakness 31 HP:0003324
30 mildly elevated creatine kinase 31 HP:0008180
31 hand clenching 31 HP:0001188
32 proximal muscle weakness 31 HP:0003701
33 frequent falls 31 HP:0002359
34 inability to walk 31 HP:0002540
35 bulbar palsy 31 HP:0001283
36 myopathic facies 31 HP:0002058
37 emg: neuropathic changes 31 HP:0003445
38 neck flexor weakness 31 HP:0003722
39 abnormal rib cage morphology 31 HP:0001547
40 late-onset distal muscle weakness 31 HP:0003810
41 mitochondrial depletion 31 HP:0030059

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen Gastrointestinal:
dysphagia
poor feeding

Respiratory:
respiratory insufficiency due to muscle weakness
absence of spontaneous respiration (severe form)

Neurologic Central Nervous System:
areflexia
hyporeflexia
delayed motor development
absent gag reflex
slow gross motor activity
more
Head And Neck Mouth:
high-arched palate
cleft palate (severe form)

Head And Neck Neck:
neck flexor muscle weakness

Prenatal Manifestations Amniotic Fluid:
polyhydramnios (severe form)
fetal hydrops (severe form)

Chest External Features:
chest deformities

Head And Neck Eyes:
hypertelorism (severe form)

Skeletal Feet:
talipes (severe form)

Skeletal Spine:
hyperlordosis
scoliosis (onset around puberty)
rigid spine

Muscle Soft Tissue:
type 1 muscle fiber predominance
frequent falls
neck muscle weakness
facial muscle weakness
distal limb muscle weakness occurs later
more
Head And Neck Face:
myopathic facies
facial muscle weakness
long philtrum (severe form)

Skeletal:
joint contractures
joint deformities (may develop over time)
arthrogryposis (severe form)

Prenatal Manifestations Movement:
decreased fetal movement (severe form)

Laboratory Abnormalities:
normal or mildly increased serum creatine kinase

Head And Neck Ears:
low-set ears (severe form)

Skeletal Hands:
clenched hands (severe form)

Clinical features from OMIM®:

256030 (Updated 20-May-2021)

UMLS symptoms related to Nemaline Myopathy 2:


waddling gait; generalized muscle weakness; facial paresis

MGI Mouse Phenotypes related to Nemaline Myopathy 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 CFL2 KBTBD13 KLHL40 KLHL41 LMOD3 MYPN

Drugs & Therapeutics for Nemaline Myopathy 2

Search Clinical Trials , NIH Clinical Center for Nemaline Myopathy 2

Genetic Tests for Nemaline Myopathy 2

Genetic tests related to Nemaline Myopathy 2:

# Genetic test Affiliating Genes
1 Nemaline Myopathy 2 29 NEB

Anatomical Context for Nemaline Myopathy 2

MalaCards organs/tissues related to Nemaline Myopathy 2:

40
Skeletal Muscle, Colon, Brain

Publications for Nemaline Myopathy 2

Articles related to Nemaline Myopathy 2:

(show top 50) (show all 62)
# Title Authors PMID Year
1
Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene. 6 57
28336317 2017
2
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth. 57 6
26578207 2015
3
Mutation update: the spectra of nebulin variants and associated myopathies. 57 6
25205138 2014
4
Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy. 57 6
22367672 2012
5
Core-rod myopathy caused by mutations in the nebulin gene. 6 57
19805734 2009
6
Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency. 57 6
19346529 2009
7
The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence. 6 57
19232495 2009
8
Distal myopathy caused by homozygous missense mutations in the nebulin gene. 57 6
17525139 2007
9
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 57 6
16917880 2006
10
Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. 57 6
15221447 2004
11
Mutations in the nebulin gene can cause severe congenital nemaline myopathy. 6 57
12207937 2002
12
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 57 6
10051637 1999
13
Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene. 61 6
24056153 2015
14
Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2). 6 61
19944167 2010
15
Refined localisation of the genes for nebulin and titin on chromosome 2q allows the assignment of nebulin as a candidate gene for autosomal recessive nemaline myopathy. 57 61
9359044 1997
16
A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis. 57 61
8580725 1995
17
RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy. 6
30467404 2019
18
Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene. 6
30679003 2019
19
[Clinical, pathological and genetic studies of two cases of childhood-onset nemaline myopathy]. 6
30369353 2018
20
Characterization of congenital myopathies at a Korean neuromuscular center. 6
29669168 2018
21
Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia. 6
29382405 2018
22
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. 6
28600779 2017
23
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. 6
28132693 2017
24
Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita. 6
27933661 2017
25
Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders. 6
27357428 2016
26
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients. 6
27105866 2016
27
New massive parallel sequencing approach improves the genetic characterization of congenital myopathies. 6
26841830 2016
28
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 6
27854218 2016
29
A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array. 6
26197980 2016
30
One in seven colorectal cancer patients is under 50, US study shows. 6
26809612 2016
31
Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing. 6
26809617 2016
32
Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy. 6
26403434 2015
33
Epigenetic changes as a common trigger of muscle weakness in congenital myopathies. 6
26019235 2015
34
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 6
25356970 2015
35
Potential toxicity of pesticides in freshwater environments: passive sampling, exposure and impacts on biofilms: the PoToMAC project. 6
25205148 2015
36
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
37
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. 6
25473036 2014
38
Congenital myopathy with cap-like structures and nemaline rods: case report and literature review. 6
25079567 2014
39
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype. 6
24725366 2014
40
Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations. 6
25110572 2014
41
Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations. 6
23572184 2013
42
Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy. 6
23715096 2013
43
An integrated diagnosis strategy for congenital myopathies. 6
23826317 2013
44
Expression of multiple nebulin isoforms in human skeletal muscle and brain. 6
22941678 2012
45
Active human retrotransposons: variation and disease. 6
22406018 2012
46
Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy. 6
21724397 2011
47
LOVD v.2.0: the next generation in gene variant databases. 6
21520333 2011
48
A mobile threat to genome stability: The impact of non-LTR retrotransposons upon the human genome. 6
20307669 2010
49
The impact of retrotransposons on human genome evolution. 6
19763152 2009
50
Nebulin mutations in autosomal recessive nemaline myopathy: an update. 6
12207938 2002

Variations for Nemaline Myopathy 2

ClinVar genetic disease variations for Nemaline Myopathy 2:

6 (show top 50) (show all 2676)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NEB , RIF1 NM_001271208.2(NEB):c.22746del (p.Met7582fs) Deletion Pathogenic 14046 rs1057515573 GRCh37: 2:152375533-152375533
GRCh38: 2:151519019-151519019
2 NEB , RIF1 NM_001271208.2(NEB):c.23500_23503dup (p.Leu7835fs) Duplication Pathogenic 14047 rs1057515574 GRCh37: 2:152364571-152364572
GRCh38: 2:151508057-151508058
3 NEB NEB, 2-BP DEL, AG, EX172 Deletion Pathogenic 14048 GRCh37:
GRCh38:
4 NEB NEB, 2-BP DEL, GA, EX181 Deletion Pathogenic 14049 rs1559154278 GRCh37:
GRCh38:
5 NEB , RIF1 NM_001271208.2(NEB):c.25279G>T (p.Glu8427Ter) SNV Pathogenic 14050 rs121913662 GRCh37: 2:152347009-152347009
GRCh38: 2:151490495-151490495
6 NEB , RIF1 NM_001271208.2(NEB):c.22584+1G>C SNV Pathogenic 14051 rs1057515575 GRCh37: 2:152380824-152380824
GRCh38: 2:151524310-151524310
7 NEB NM_001271208.2(NEB):c.19712_19716delinsGAG (p.Ala6571fs) Indel Pathogenic 129704 rs587780397 GRCh37: 2:152409927-152409931
GRCh38: 2:151553413-151553417
8 NEB NM_001271208.2(NEB):c.3774+1G>A SNV Pathogenic 211588 rs111293259 GRCh37: 2:152534078-152534078
GRCh38: 2:151677564-151677564
9 NEB NM_001271208.2(NEB):c.18597del (p.Tyr6200fs) Deletion Pathogenic 211583 rs797045735 GRCh37: 2:152420216-152420216
GRCh38: 2:151563702-151563702
10 NEB NM_001271208.2(NEB):c.294+2T>C SNV Pathogenic 287422 rs773952935 GRCh37: 2:152584203-152584203
GRCh38: 2:151727689-151727689
11 NEB NM_001271208.2(NEB):c.3987+1G>A SNV Pathogenic 371210 rs780022652 GRCh37: 2:152530990-152530990
GRCh38: 2:151674476-151674476
12 NEB , RIF1 NM_001271208.2(NEB):c.25101del (p.Gln8368fs) Deletion Pathogenic 435969 rs1553526884 GRCh37: 2:152348673-152348673
GRCh38: 2:151492159-151492159
13 NEB NM_001271208.2(NEB):c.1471-1G>A SNV Pathogenic 435970 rs1553605995 GRCh37: 2:152553250-152553250
GRCh38: 2:151696736-151696736
14 NEB NM_001271208.2(NEB):c.5722del (p.Ser1908fs) Deletion Pathogenic 465618 rs1553484601 GRCh37: 2:152520103-152520103
GRCh38: 2:151663589-151663589
15 NEB NM_001271208.2(NEB):c.2920C>T (p.Arg974Ter) SNV Pathogenic 465594 rs1553548666 GRCh37: 2:152539199-152539199
GRCh38: 2:151682685-151682685
16 NEB NM_001271208.2(NEB):c.12684T>G (p.Tyr4228Ter) SNV Pathogenic 465462 rs1553875421 GRCh37: 2:152463183-152463183
GRCh38: 2:151606669-151606669
17 NEB NM_001271208.2(NEB):c.3255+1G>A SNV Pathogenic 449502 rs375628303 GRCh37: 2:152536234-152536234
GRCh38: 2:151679720-151679720
18 NEB NM_001271208.2(NEB):c.9726_9727insAT (p.Leu3243fs) Insertion Pathogenic 465655 rs1553934562 GRCh37: 2:152486157-152486158
GRCh38: 2:151629643-151629644
19 NEB NM_001271208.2(NEB):c.19944G>A (p.Ser6648=) SNV Pathogenic 235402 rs201553266 GRCh37: 2:152408252-152408252
GRCh38: 2:151551738-151551738
20 NEB , RIF1 NM_001271208.2(NEB):c.24314_24317dup (p.Leu8106fs) Duplication Pathogenic 465579 rs781667543 GRCh37: 2:152354227-152354228
GRCh38: 2:151497713-151497714
21 NEB NM_001271208.2(NEB):c.13788+1G>A SNV Pathogenic 465492 rs1553862061 GRCh37: 2:152456955-152456955
GRCh38: 2:151600441-151600441
22 NEB , RIF1 NM_001271208.2(NEB):c.24248del (p.Gly8083fs) Deletion Pathogenic 465578 rs1553556154 GRCh37: 2:152354838-152354838
GRCh38: 2:151498324-151498324
23 NEB NM_001271208.2(NEB):c.11585_11586delinsC (p.Tyr3862fs) Indel Pathogenic 465439 rs1553896522 GRCh37: 2:152470805-152470806
GRCh38: 2:151614291-151614292
24 NEB NM_001271208.2(NEB):c.19097G>T (p.Ser6366Ile) SNV Pathogenic 496132 rs191579691 GRCh37: 2:152417726-152417726
GRCh38: 2:151561212-151561212
25 NEB NM_001271208.2(NEB):c.10872+1G>T SNV Pathogenic 506287 rs1336053002 GRCh37: 2:152475964-152475964
GRCh38: 2:151619450-151619450
26 NEB , RIF1 NM_001271208.2(NEB):c.22249A>C (p.Thr7417Pro) SNV Pathogenic 506284 rs761232641 GRCh37: 2:152382489-152382489
GRCh38: 2:151525975-151525975
27 NEB , RIF1 NM_001271208.2(NEB):c.21609del (p.Asn7204fs) Deletion Pathogenic 533964 rs934955715 GRCh37: 2:152388324-152388324
GRCh38: 2:151531810-151531810
28 NEB NM_001271208.2(NEB):c.3858C>A (p.Cys1286Ter) SNV Pathogenic 444521 rs1386238241 GRCh37: 2:152531822-152531822
GRCh38: 2:151675308-151675308
29 NEB , RIF1 NM_001271208.2(NEB):c.24444_24447del (p.Pro8149fs) Deletion Pathogenic 533968 rs934111355 GRCh37: 2:152353506-152353509
GRCh38: 2:151496992-151496995
30 NEB NM_001271208.2(NEB):c.4652del (p.Gly1551fs) Deletion Pathogenic 533982 rs1553502168 GRCh37: 2:152524385-152524385
GRCh38: 2:151667871-151667871
31 NEB , RIF1 NM_001271208.2(NEB):c.24294_24297dup (p.Glu8100fs) Duplication Pathogenic 533994 rs1553555882 GRCh37: 2:152354788-152354789
GRCh38: 2:151498274-151498275
32 NEB , RIF1 NM_001271208.2(NEB):c.25101_25104delinsATTCAA (p.Gln8368fs) Indel Pathogenic 533995 rs1553526832 GRCh37: 2:152348670-152348673
GRCh38: 2:151492156-151492159
33 NEB NM_001271208.2(NEB):c.13704T>A (p.Tyr4568Ter) SNV Pathogenic 534017 rs1553862274 GRCh37: 2:152457040-152457040
GRCh38: 2:151600526-151600526
34 NEB NM_001271208.2(NEB):c.17845-1G>A SNV Pathogenic 534004 rs1371849916 GRCh37: 2:152423994-152423994
GRCh38: 2:151567480-151567480
35 NEB , RIF1 NM_001271208.2(NEB):c.24218C>A (p.Ser8073Ter) SNV Pathogenic 496134 rs1458048713 GRCh37: 2:152355813-152355813
GRCh38: 2:151499299-151499299
36 NEB NM_001271208.2(NEB):c.20845dup (p.Thr6949fs) Duplication Pathogenic 551753 rs1553695209 GRCh37: 2:152396904-152396905
GRCh38: 2:151540390-151540391
37 NEB , RIF1 NM_001271208.2(NEB):c.24632_24633del (p.Pro8211fs) Deletion Pathogenic 265493 rs555445835 GRCh37: 2:152350726-152350727
GRCh38: 2:151494212-151494213
38 NEB NM_001271208.2(NEB):c.2943+1G>A SNV Pathogenic 551899 rs113091511 GRCh37: 2:152539175-152539175
GRCh38: 2:151682661-151682661
39 NEB NM_001271208.2(NEB):c.78+1G>A SNV Pathogenic 552018 rs778593702 GRCh37: 2:152586128-152586128
GRCh38: 2:151729614-151729614
40 NEB , RIF1 NM_001271208.2(NEB):c.24372_24375del (p.Arg8125fs) Deletion Pathogenic 552268 rs747564597 GRCh37: 2:152354170-152354173
GRCh38: 2:151497656-151497659
41 NEB NM_001271208.2(NEB):c.18808C>T (p.Arg6270Ter) SNV Pathogenic 553116 rs754369875 GRCh37: 2:152419208-152419208
GRCh38: 2:151562694-151562694
42 NEB , RIF1 NM_001271208.2(NEB):c.24693C>G (p.Tyr8231Ter) SNV Pathogenic 432817 rs754272530 GRCh37: 2:152350373-152350373
GRCh38: 2:151493859-151493859
43 NEB NM_001271208.2(NEB):c.18676C>T (p.Gln6226Ter) SNV Pathogenic 557505 rs1475648900 GRCh37: 2:152420137-152420137
GRCh38: 2:151563623-151563623
44 NEB , RIF1 NM_001271208.2(NEB):c.24372_24375dup (p.Val8126fs) Duplication Pathogenic 558069 rs747564597 GRCh37: 2:152354169-152354170
GRCh38: 2:151497655-151497656
45 NEB NM_001271208.2(NEB):c.11164C>T (p.Arg3722Ter) SNV Pathogenic 496131 rs928945364 GRCh37: 2:152473895-152473895
GRCh38: 2:151617381-151617381
46 NEB NM_001271208.2(NEB):c.7523_7526del (p.Ile2508fs) Deletion Pathogenic 242434 rs878854368 GRCh37: 2:152502654-152502657
GRCh38: 2:151646140-151646143
47 NEB , RIF1 NM_001271208.2(NEB):c.22361_22362delinsG (p.Ala7454fs) Indel Pathogenic 567422 rs1559534672 GRCh37: 2:152381692-152381693
GRCh38: 2:151525178-151525179
48 NEB NM_001271208.2(NEB):c.5574C>G (p.Tyr1858Ter) SNV Pathogenic 449501 rs781185019 GRCh37: 2:152520251-152520251
GRCh38: 2:151663737-151663737
49 NEB , RIF1 NM_001271208.2(NEB):c.21816_21817dup (p.Asp7273fs) Duplication Pathogenic 568050 rs1559580467 GRCh37: 2:152385746-152385747
GRCh38: 2:151529232-151529233
50 NEB , RIF1 NM_001271208.2(NEB):c.23953_23956dup (p.Asn7986fs) Duplication Pathogenic 574224 rs1559296376 GRCh37: 2:152359383-152359384
GRCh38: 2:151502869-151502870

Expression for Nemaline Myopathy 2

Search GEO for disease gene expression data for Nemaline Myopathy 2.

Pathways for Nemaline Myopathy 2

Pathways related to Nemaline Myopathy 2 according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.44 NME2 NME1-NME2 NME1 CTPS1 CMPK1
2
Show member pathways
11.78 NME2 NME1-NME2 NME1
3
Show member pathways
11.78 NME2 NME1-NME2 NME1 CTPS1 CMPK1
4
Show member pathways
11.55 NME2 NME1-NME2 NME1 CTPS1 CMPK1
5 11.54 NME2 NME1-NME2 NME1
6 11.49 NME2 NME1-NME2 NME1
7 10.94 NME2 NME1
8 10.78 NME2 NME1
9 10.69 NME2 NME1 CMPK1
10
Show member pathways
10.6 NME2 NME1
11 10.32 NME2 NME1 CTPS1 CMPK1
12 10.22 NME2 NME1

GO Terms for Nemaline Myopathy 2

Cellular components related to Nemaline Myopathy 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.33 NEB MYPN CFL2
2 M band GO:0031430 9.26 LMOD3 KLHL41
3 A band GO:0031672 8.96 LMOD3 KLHL40
4 I band GO:0031674 8.8 MYPN KLHL40 CFL2

Biological processes related to Nemaline Myopathy 2 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 9.7 LMOD3 KBTBD13 CFL2
2 sarcomere organization GO:0045214 9.61 MYPN KLHL41 CFL2
3 nucleotide metabolic process GO:0009117 9.55 NME2 NME1
4 cellular response to fatty acid GO:0071398 9.54 NME2 NME1
5 skeletal muscle fiber development GO:0048741 9.54 LMOD3 KLHL41 KLHL40
6 striated muscle contraction GO:0006941 9.51 LMOD3 KLHL41
7 GTP biosynthetic process GO:0006183 9.5 NME2 NME1-NME2 NME1
8 myofibril assembly GO:0030239 9.49 LMOD3 KLHL41
9 nucleoside triphosphate biosynthetic process GO:0009142 9.48 NME2 CMPK1
10 pyrimidine nucleotide biosynthetic process GO:0006221 9.46 CTPS1 CMPK1
11 nucleobase-containing small molecule interconversion GO:0015949 9.46 NME2 NME1 CTPS1 CMPK1
12 UTP biosynthetic process GO:0006228 9.43 NME2 NME1-NME2 NME1
13 negative regulation of myeloid leukocyte differentiation GO:0002762 9.4 NME2 NME1
14 nucleoside diphosphate phosphorylation GO:0006165 9.26 NME2 NME1-NME2 NME1 CMPK1
15 CTP biosynthetic process GO:0006241 8.92 NME2 NME1-NME2 NME1 CTPS1

Molecular functions related to Nemaline Myopathy 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament binding GO:0019215 8.96 NME2 NME1
2 nucleoside diphosphate kinase activity GO:0004550 8.92 NME2 NME1-NME2 NME1 CMPK1

Sources for Nemaline Myopathy 2

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....