NEM2
MCID: NML003
MIFTS: 55

Nemaline Myopathy 2 (NEM2)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Nemaline Myopathy 2

MalaCards integrated aliases for Nemaline Myopathy 2:

Name: Nemaline Myopathy 2 57 11 73 28 5 43 14 71
Nemaline Myopathy 2, Autosomal Recessive 57 11 12
Nem2 57 11 73
Neb-Related Nemaline Myopathy 73
Myopathy, Nemaline, Type 2 38
Nemaline Myopathy, Type 2 75

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy
highly variable severity
extraocular muscles are not involved
slowly progressive or nonprogressive course
many adults with typical form remain ambulatory


Classifications:



Summaries for Nemaline Myopathy 2

OMIM®: 57 Nemaline myopathy-2 (NEM2) 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. 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 08-Dec-2022)

MalaCards based summary: Nemaline Myopathy 2, also known as nemaline myopathy 2, autosomal recessive, is related to nemaline myopathy and 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 Pyrimidine metabolism. Affiliated tissues include skeletal muscle, colon and lung, and related phenotypes are dysarthria and high palate

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 A nemaline myopathy that has material basis in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23.

Wikipedia: 75 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 47)
# Related Disease Score Top Affiliating Genes
1 nemaline myopathy 30.4 RIF1 NEB KLHL41 ACTA1
2 myopathy 29.2 TPM3 NEB MYPN MEGF10 LMOD3 KLHL41
3 batten-turner congenital myopathy 28.8 TPM3 NEB MYPN MEGF10 LMOD3 KLHL41
4 arthrogryposis multiplex congenita 6 10.3 RIF1 NEB
5 neuronopathy, distal hereditary motor, type iia 10.2 LMOD3 KLHL40
6 locked-in syndrome 10.2 LMOD3 KLHL40
7 king-denborough syndrome 10.2 KLHL40 KBTBD13
8 endometrium carcinoma in situ 10.2 NME2 NME1-NME2
9 cap myopathy 10.2 TPM3 MYPN
10 rhabdomyolysis-myalgia syndrome 10.2 MEGF10 KBTBD13
11 spinal muscular atrophy type 0 10.2 LMOD3 KLHL41 KLHL40
12 myopathy, myofibrillar, 4 10.2 NEB MYPN
13 nemaline myopathy 11, autosomal recessive 10.2 MYPN LMOD3 KLHL40
14 myopathy, spheroid body 10.2 NEB MYPN LMOD3
15 myopathy, distal, 1 10.1 NEB KBTBD13 ACTA1
16 central core disease of muscle 10.1 NEB KBTBD13 ACTA1
17 hyaline body myopathy 10.1 NEB ACTA1
18 nemaline myopathy 9 10.1 LMOD3 KLHL41 KLHL40 KBTBD13
19 myopathy, myofibrillar, 3 10.1 NEB MYPN
20 multiple pterygium syndrome, escobar variant 10.1 NEB LMOD3 KLHL41 KLHL40
21 carey-fineman-ziter syndrome 1 10.1 MEGF10 KLHL40
22 myopathy, congenital, with fiber-type disproportion 10.1 TPM3 ACTA1
23 myopathy, centronuclear, 1 10.1 LMOD3 KLHL40 ACTA1
24 centronuclear myopathy 10.1 NEB KLHL40 KBTBD13 ACTA1
25 rigid spine muscular dystrophy 1 10.1 NEB MEGF10 ACTA1
26 endocardial fibroelastosis 10.0 NEB MYPN
27 congenital myasthenic syndrome 10.0 NEB KLHL40 KBTBD13 ACTA1
28 nemaline myopathy 5 10.0 TNNI1 NEB LMOD3 KBTBD13
29 intermediate congenital nemaline myopathy 10.0 TPM3 NEB KLHL41 ACTA1
30 cardiomyopathy, dilated, 1ff 10.0 LMOD3 KBTBD13 CFL2 ACTA1
31 cardiomyopathy, dilated, 2a 10.0 LMOD3 KBTBD13 CFL2 ACTA1
32 neuromuscular disease 10.0 NEB KLHL40 KBTBD13 ACTA1
33 nemaline myopathy 10 10.0 MYPN LMOD3 KLHL41 KLHL40 KBTBD13
34 severe congenital nemaline myopathy 10.0 NEB LMOD3 KLHL41 KLHL40 ACTA1
35 hypotonia 10.0
36 typical congenital nemaline myopathy 9.9 NEB LMOD3 KLHL41 CFL2 ACTA1
37 nemaline myopathy 8 9.9 NEB MYPN LMOD3 KLHL41 KLHL40 KBTBD13
38 myofibrillar myopathy 9.9 NEB MYPN KLHL40 CFL2 ACTA1
39 cardiomyopathy, familial hypertrophic, 1 9.9 TNNI1 NEB MYPN ACTA1
40 multiminicore disease 9.9 NEB MEGF10 KBTBD13 CFL2 ACTA1
41 respiratory failure 9.8 MYPN MEGF10 LMOD3 KLHL40 ACTA1
42 childhood-onset nemaline myopathy 9.8 TPM3 NEB MYPN KLHL41 KBTBD13 ACTA1
43 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 9.7 TPM3 TNNI1 NEB KBTBD13 CFL2 ACTA1
44 distal arthrogryposis 9.7 TPM3 NEB LMOD3 KLHL41 KLHL40 KBTBD13
45 congenital structural myopathy 9.5 TPM3 NEB MYPN LMOD3 KLHL41 KLHL40
46 dilated cardiomyopathy 9.4 TNNI1 NEB MYPN CFL2 ACTA1
47 congenital fiber-type disproportion 9.2 TPM3 TNNI1 NEB MEGF10 LMOD3 KLHL41

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:

30 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 30 Very rare (1%) HP:0001260
2 high palate 30 Very rare (1%) HP:0000218
3 rimmed vacuoles 30 Very rare (1%) HP:0003805
4 easy fatigability 30 Very rare (1%) HP:0003388
5 nemaline bodies 30 Very rare (1%) HP:0003798
6 narrow mouth 30 Very rare (1%) HP:0000160
7 steppage gait 30 Very rare (1%) HP:0003376
8 foot dorsiflexor weakness 30 Very rare (1%) HP:0009027
9 myopathic facies 30 Very rare (1%) HP:0002058
10 weakness of facial musculature 30 Very rare (1%) HP:0030319
11 frequent falls 30 Very rare (1%) HP:0002359
12 increased variability in muscle fiber diameter 30 Very rare (1%) HP:0003557
13 thenar muscle atrophy 30 Very rare (1%) HP:0003393
14 muscle fiber splitting 30 Very rare (1%) HP:0003555
15 fatty replacement of skeletal muscle 30 Very rare (1%) HP:0012548
16 calf muscle pseudohypertrophy 30 Very rare (1%) HP:0003707
17 sternocleidomastoid amyotrophy 30 Very rare (1%) HP:0012036
18 scoliosis 30 HP:0002650
19 dysphagia 30 HP:0002015
20 hyperlordosis 30 HP:0003307
21 hypertelorism 30 HP:0000316
22 neonatal hypotonia 30 HP:0001319
23 flexion contracture 30 HP:0001371
24 cleft palate 30 HP:0000175
25 low-set ears 30 HP:0000369
26 waddling gait 30 HP:0002515
27 spinal rigidity 30 HP:0003306
28 emg: myopathic abnormalities 30 HP:0003458
29 respiratory insufficiency due to muscle weakness 30 HP:0002747
30 motor delay 30 HP:0001270
31 type 1 muscle fiber predominance 30 HP:0003803
32 slender build 30 HP:0001533
33 polyhydramnios 30 HP:0001561
34 talipes 30 HP:0001883
35 long philtrum 30 HP:0000343
36 areflexia 30 HP:0001284
37 apnea 30 HP:0002104
38 decreased fetal movement 30 HP:0001558
39 hyporeflexia 30 HP:0001265
40 arthrogryposis multiplex congenita 30 HP:0002804
41 feeding difficulties 30 HP:0011968
42 limb muscle weakness 30 HP:0003690
43 generalized muscle weakness 30 HP:0003324
44 hand clenching 30 HP:0001188
45 proximal muscle weakness 30 HP:0003701
46 mildly elevated creatine kinase 30 HP:0008180
47 inability to walk 30 HP:0002540
48 bulbar palsy 30 HP:0001283
49 emg: neuropathic changes 30 HP:0003445
50 neck flexor weakness 30 HP:0003722

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Abdomen Gastrointestinal:
dysphagia
poor feeding

Respiratory:
respiratory insufficiency due to muscle weakness

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

Head And Neck Neck:
neck flexor muscle weakness

Chest External Features:
chest deformities

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

Muscle Soft Tissue:
type 1 muscle fiber predominance
neck muscle weakness
frequent falls
facial muscle weakness
hypotonia, neonatal
more
Head And Neck Face:
myopathic facies
facial muscle weakness

Skeletal:
joint contractures
joint deformities (may develop over time)

Laboratory Abnormalities:
normal or mildly increased serum creatine kinase

Clinical features from OMIM®:

256030 (Updated 08-Dec-2022)

UMLS symptoms related to Nemaline Myopathy 2:


waddling gait; generalized muscle weakness; facial paresis

MGI Mouse Phenotypes related to Nemaline Myopathy 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.85 ACTA1 CFL2 KBTBD13 KLHL40 KLHL41 LMOD3
2 growth/size/body region MP:0005378 9.8 ACTA1 ANAPC15 CFL2 CMPK1 KBTBD13 KLHL40
3 mortality/aging MP:0010768 9.44 ACTA1 ANAPC15 CFL2 CMPK1 KLHL40 KLHL41

Drugs & Therapeutics for Nemaline Myopathy 2

Search Clinical Trials, NIH Clinical Center for Nemaline Myopathy 2

Cochrane evidence based reviews: nemaline myopathy 2

Genetic Tests for Nemaline Myopathy 2

Genetic tests related to Nemaline Myopathy 2:

# Genetic test Affiliating Genes
1 Nemaline Myopathy 2 28 NEB

Anatomical Context for Nemaline Myopathy 2

Organs/tissues related to Nemaline Myopathy 2:

MalaCards : Skeletal Muscle, Colon, Lung, Brain
ODiseA: Skeletal Muscle

Publications for Nemaline Myopathy 2

Articles related to Nemaline Myopathy 2:

(show top 50) (show all 76)
# Title Authors PMID Year
1
Mutation update: the spectra of nebulin variants and associated myopathies. 57 5
25205138 2014
2
Core-rod myopathy caused by mutations in the nebulin gene. 57 5
19805734 2009
3
Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency. 57 5
19346529 2009
4
The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence. 57 5
19232495 2009
5
Distal myopathy caused by homozygous missense mutations in the nebulin gene. 57 5
17525139 2007
6
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 57 5
16917880 2006
7
Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. 57 5
15221447 2004
8
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 57 5
10051637 1999
9
Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene. 62 5
24056153 2015
10
Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2). 62 5
19944167 2010
11
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. 62 57
9359044 1997
12
A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis. 62 57
8580725 1995
13
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network. 5
34782754 2022
14
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness. 5
32528171 2020
15
Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy. 5
32222963 2020
16
RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy. 5
30467404 2019
17
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome. 5
30859559 2019
18
Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene. 5
30679003 2019
19
Characterization of congenital myopathies at a Korean neuromuscular center. 5
29669168 2018
20
A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes. 5
29792937 2018
21
Long term history of a congenital core-rod myopathy with compound heterozygous mutations in the Nebulin gene. 5
30057997 2018
22
Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia. 5
29382405 2018
23
Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark. 5
28357410 2017
24
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. 5
28424332 2017
25
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. 5
28132693 2017
26
Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita. 5
27933661 2017
27
Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany. 5
29172004 2017
28
Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders. 5
27357428 2016
29
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients. 5
27105866 2016
30
New massive parallel sequencing approach improves the genetic characterization of congenital myopathies. 5
26841830 2016
31
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 5
27854218 2016
32
A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array. 5
26197980 2016
33
NEB-related core-rod myopathy with distinct clinical and pathological features. 5
26562614 2016
34
Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing. 5
26809617 2016
35
One in seven colorectal cancer patients is under 50, US study shows. 5
26809612 2016
36
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth. 5
26578207 2015
37
Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy. 5
26403434 2015
38
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 5
25356970 2015
39
Potential toxicity of pesticides in freshwater environments: passive sampling, exposure and impacts on biofilms: the PoToMAC project. 5
25205148 2015
40
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 5
25525159 2015
41
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. 5
25473036 2014
42
Congenital myopathy with cap-like structures and nemaline rods: case report and literature review. 5
25079567 2014
43
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype. 5
24725366 2014
44
Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations. 5
25110572 2014
45
Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders. 5
23726790 2013
46
Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy. 5
23715096 2013
47
Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations. 5
23572184 2013
48
Targeted array comparative genomic hybridization--a new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes. 5
23010307 2013
49
Expression of multiple nebulin isoforms in human skeletal muscle and brain. 5
22941678 2012
50
Active human retrotransposons: variation and disease. 5
22406018 2012

Variations for Nemaline Myopathy 2

ClinVar genetic disease variations for Nemaline Myopathy 2:

5 (show top 50) (show all 5960)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NEB NC_000002.12:g.(?_151645758)_(151648259_?)del DEL Pathogenic
652384 GRCh37: 2:152502272-152504773
GRCh38: 2:151645758-151648259
2 NEB NC_000002.12:g.(?_151646120)_(151646244_?)del DEL Pathogenic
652395 GRCh37: 2:152502634-152502758
GRCh38: 2:151646120-151646244
3 NEB NC_000002.12:g.(?_151646110)_(151646254_?)del DEL Pathogenic
665633 GRCh37: 2:152502624-152502768
GRCh38: 2:151646110-151646254
4 NEB GRCh37/hg19 2q23.3(chr2:152502644-152502748) CN LOSS Pathogenic
813318 GRCh37: 2:152502644-152502748
GRCh38:
5 NEB NC_000002.12:g.(?_151614266)_(151697658_?)del DEL Pathogenic
831138 GRCh37: 2:152470780-152554172
GRCh38:
6 overlap with 3 genes NC_000002.12:g.(?_151485750)_(151957616_?)del DEL Pathogenic
833295 GRCh37: 2:152342264-152814130
GRCh38:
7 NEB NM_001271208.2(NEB):c.18696_18697insSVAelement INSERT Pathogenic
870236 GRCh37: 2:152419319-152419320
GRCh38: 2:151562805-151562806
8 NEB NC_000002.11:g.(?_152524298)_(152525665_?)del DEL Pathogenic
1069477 GRCh37: 2:152524298-152525665
GRCh38:
9 NEB NC_000002.11:g.(?_152417188)_152418728del DEL Pathogenic
1069478 GRCh37:
GRCh38:
10 NEB NC_000002.11:g.(?_152482028)_(152567072_?)del DEL Pathogenic
1457908 GRCh37: 2:152482028-152567072
GRCh38:
11 NEB, RIF1 NM_001164508.2(NEB):c.22641del (p.Met7547fs) DEL Pathogenic
14046 rs1057515573 GRCh37: 2:152375533-152375533
GRCh38: 2:151519019-151519019
12 NEB, RIF1 NM_001164508.2(NEB):c.23395_23398dup (p.Leu7800fs) DUP Pathogenic
14047 rs1057515574 GRCh37: 2:152364571-152364572
GRCh38: 2:151508057-151508058
13 NEB, RIF1 NM_001164508.2(NEB):c.25174G>T (p.Glu8392Ter) SNV Pathogenic
14050 rs121913662 GRCh37: 2:152347009-152347009
GRCh38: 2:151490495-151490495
14 NEB, RIF1 NM_001164508.2(NEB):c.22479+1G>C SNV Pathogenic
14051 rs1057515575 GRCh37: 2:152380824-152380824
GRCh38: 2:151524310-151524310
15 NEB NM_001164508.2(NEB):c.19712_19716delinsGAG (p.Ala6571fs) INDEL Pathogenic
129704 rs587780397 GRCh37: 2:152409927-152409931
GRCh38: 2:151553413-151553417
16 NEB NM_001164508.2(NEB):c.3774+1G>A SNV Pathogenic
211588 rs111293259 GRCh37: 2:152534078-152534078
GRCh38: 2:151677564-151677564
17 NEB NM_001164508.2(NEB):c.18597del (p.Tyr6200fs) DEL Pathogenic
211583 rs797045735 GRCh37: 2:152420216-152420216
GRCh38: 2:151563702-151563702
18 NEB NC_000002.11:g.(?_152380815)_(152384109_?)del DEL Pathogenic
1459336 GRCh37: 2:152380815-152384109
GRCh38:
19 NEB NM_001164508.2(NEB):c.294+2T>C SNV Pathogenic
287422 rs773952935 GRCh37: 2:152584203-152584203
GRCh38: 2:151727689-151727689
20 NEB NM_001164508.2(NEB):c.3987+1G>A SNV Pathogenic
371210 rs780022652 GRCh37: 2:152530990-152530990
GRCh38: 2:151674476-151674476
21 NEB, RIF1 NM_001164508.2(NEB):c.24996del (p.Gln8333fs) DEL Pathogenic
435969 rs1553526884 GRCh37: 2:152348673-152348673
GRCh38: 2:151492159-151492159
22 NEB NM_001164508.2(NEB):c.1471-1G>A SNV Pathogenic
435970 rs1553605995 GRCh37: 2:152553250-152553250
GRCh38: 2:151696736-151696736
23 NEB NM_001164508.2(NEB):c.11627G>A (p.Trp3876Ter) SNV Pathogenic
450119 rs776569219 GRCh37: 2:152468878-152468878
GRCh38: 2:151612364-151612364
24 NEB NM_001164508.2(NEB):c.5722del (p.Ser1908fs) DEL Pathogenic
465618 rs1553484601 GRCh37: 2:152520103-152520103
GRCh38: 2:151663589-151663589
25 NEB NM_001164508.2(NEB):c.2920C>T (p.Arg974Ter) SNV Pathogenic
465594 rs1553548666 GRCh37: 2:152539199-152539199
GRCh38: 2:151682685-151682685
26 NEB NM_001164508.2(NEB):c.12684T>G (p.Tyr4228Ter) SNV Pathogenic
465462 rs1553875421 GRCh37: 2:152463183-152463183
GRCh38: 2:151606669-151606669
27 NEB NM_001164508.2(NEB):c.9726_9727insAT (p.Leu3243fs) INSERT Pathogenic
465655 rs1553934562 GRCh37: 2:152486157-152486158
GRCh38: 2:151629643-151629644
28 NEB NM_001164508.2(NEB):c.19944G>A (p.Ser6648=) SNV Pathogenic
235402 rs201553266 GRCh37: 2:152408252-152408252
GRCh38: 2:151551738-151551738
29 NEB, RIF1 NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs) DUP Pathogenic
465579 rs781667543 GRCh37: 2:152354227-152354228
GRCh38: 2:151497713-151497714
30 NEB NM_001164508.2(NEB):c.6076-2A>C SNV Pathogenic
465621 rs1553469514 GRCh37: 2:152514606-152514606
GRCh38: 2:151658092-151658092
31 NEB, RIF1 NM_001164508.2(NEB):c.24143del (p.Gly8048fs) DEL Pathogenic
465578 rs1553556154 GRCh37: 2:152354838-152354838
GRCh38: 2:151498324-151498324
32 NEB NM_001164508.2(NEB):c.11585_11586delinsC (p.Tyr3862fs) INDEL Pathogenic
465439 rs1553896522 GRCh37: 2:152470805-152470806
GRCh38: 2:151614291-151614292
33 NEB NM_001164508.2(NEB):c.19097G>T (p.Ser6366Ile) SNV Pathogenic
496132 rs191579691 GRCh37: 2:152417726-152417726
GRCh38: 2:151561212-151561212
34 NEB, RIF1 NM_001164508.2(NEB):c.22144A>C (p.Thr7382Pro) SNV Pathogenic
506284 rs761232641 GRCh37: 2:152382489-152382489
GRCh38: 2:151525975-151525975
35 NEB, RIF1 NM_001164508.2(NEB):c.21504del (p.Asn7169fs) DEL Pathogenic
533964 rs934955715 GRCh37: 2:152388324-152388324
GRCh38: 2:151531810-151531810
36 NEB, RIF1 NM_001164508.2(NEB):c.24339_24342del (p.Pro8114fs) DEL Pathogenic
533968 rs934111355 GRCh37: 2:152353506-152353509
GRCh38: 2:151496992-151496995
37 NEB, RIF1 NM_001164508.2(NEB):c.24395_24398dup (p.Leu8133fs) DUP Pathogenic
533980 rs762133567 GRCh37: 2:152352877-152352878
GRCh38: 2:151496363-151496364
38 NEB NM_001164508.2(NEB):c.4652del (p.Gly1551fs) DEL Pathogenic
533982 rs1553502168 GRCh37: 2:152524385-152524385
GRCh38: 2:151667871-151667871
39 NEB, RIF1 NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs) DUP Pathogenic
533994 rs1553555882 GRCh37: 2:152354788-152354789
GRCh38: 2:151498274-151498275
40 NEB, RIF1 NM_001164508.2(NEB):c.24996_24999delinsATTCAA (p.Gln8333fs) INDEL Pathogenic
533995 rs1553526832 GRCh37: 2:152348670-152348673
GRCh38: 2:151492156-151492159
41 NEB NM_001164508.2(NEB):c.13704T>A (p.Tyr4568Ter) SNV Pathogenic
534017 rs1553862274 GRCh37: 2:152457040-152457040
GRCh38: 2:151600526-151600526
42 NEB NM_001164508.2(NEB):c.17845-1G>A SNV Pathogenic
534004 rs1371849916 GRCh37: 2:152423994-152423994
GRCh38: 2:151567480-151567480
43 NEB NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter) SNV Pathogenic
190457 rs769345284 GRCh37: 2:152394412-152394412
GRCh38: 2:151537898-151537898
44 NEB, RIF1 NM_001164508.2(NEB):c.24113C>A (p.Ser8038Ter) SNV Pathogenic
496134 rs1458048713 GRCh37: 2:152355813-152355813
GRCh38: 2:151499299-151499299
45 NEB NM_001164508.2(NEB):c.20845dup (p.Thr6949fs) DUP Pathogenic
551753 rs1553695209 GRCh37: 2:152396904-152396905
GRCh38: 2:151540390-151540391
46 NEB, RIF1 NM_001164508.2(NEB):c.24527_24528del (p.Pro8176fs) DEL Pathogenic
265493 rs555445835 GRCh37: 2:152350726-152350727
GRCh38: 2:151494212-151494213
47 NEB NM_001164508.2(NEB):c.2943+1G>A SNV Pathogenic
551899 rs113091511 GRCh37: 2:152539175-152539175
GRCh38: 2:151682661-151682661
48 NEB, RIF1 NM_001164508.2(NEB):c.24549_24550del (p.Arg8183fs) MICROSAT Pathogenic
552108 rs755863625 GRCh37: 2:152350704-152350705
GRCh38: 2:151494190-151494191
49 NEB, RIF1 NM_001164508.2(NEB):c.24267_24270del (p.Arg8090fs) DEL Pathogenic
552268 rs747564597 GRCh37: 2:152354170-152354173
GRCh38: 2:151497656-151497659
50 NEB NM_001164508.2(NEB):c.18808C>T (p.Arg6270Ter) SNV Pathogenic
553116 rs754369875 GRCh37: 2:152419208-152419208
GRCh38: 2:151562694-151562694

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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.27 NME2 NME1-NME2 NME1 CMPK1
2
Show member pathways
11.71 NME2 NME1-NME2 NME1 CMPK1
3 11.56 NME2 NME1-NME2 NME1
4 11.51 NME2 NME1-NME2 NME1
5
Show member pathways
11.41 NME2 NME1-NME2 NME1 CMPK1
6
Show member pathways
11.25 NME2 NME1-NME2 NME1
7
Show member pathways
11.15 NME2 NME1-NME2 NME1
8 10.83 NME2 NME1
9
Show member pathways
10.79 TPM3 TNNI1 NEB ACTA1
10
Show member pathways
10.61 NME1 CMPK1
11 10.59 NME2 NME1
12 10.39 NME2 NME1 CMPK1
13 10.31 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 cytoskeleton GO:0005856 10.02 TPM3 RIF1 NEB LMOD3 KLHL41 CFL2
2 striated muscle thin filament GO:0005865 9.46 LMOD3 ACTA1
3 A band GO:0031672 9.43 LMOD3 KLHL40
4 sarcomere GO:0030017 9.26 NEB MYPN ACTA1
5 I band GO:0031674 9.1 MYPN KLHL40 CFL2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 10 TPM3 LMOD3 KBTBD13 CFL2
2 muscle contraction GO:0006936 9.97 TPM3 TNNI1 LMOD3 ACTA1
3 sarcomere organization GO:0045214 9.91 MYPN KLHL41 CFL2
4 myofibril assembly GO:0030239 9.81 LMOD3 KLHL41
5 nucleoside triphosphate biosynthetic process GO:0009142 9.8 NME2 CMPK1
6 skeletal muscle thin filament assembly GO:0030240 9.78 LMOD3 ACTA1
7 GTP biosynthetic process GO:0006183 9.72 NME1 NME1-NME2 NME2
8 CTP biosynthetic process GO:0006241 9.65 NME1 NME1-NME2 NME2
9 nucleotide metabolic process GO:0009117 9.58 NME2 NME1 CMPK1
10 skeletal muscle fiber development GO:0048741 9.56 LMOD3 KLHL41 KLHL40 ACTA1
11 UTP biosynthetic process GO:0006228 9.55 NME2 NME1-NME2 NME1
12 nucleoside diphosphate phosphorylation GO:0006165 9.17 CMPK1 NME1 NME1-NME2 NME2

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

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.76 TPM3 NEB KBTBD13 CFL2
2 actin binding GO:0003779 9.5 TPM3 TNNI1 NEB MYPN CFL2
3 nucleoside diphosphate kinase activity GO:0004550 9.17 NME2 NME1-NME2 NME1 CMPK1

Sources for Nemaline Myopathy 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
Content
Loading form....