CNM2
MCID: MYP131
MIFTS: 51

Myopathy, Centronuclear, 2 (CNM2)

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

Aliases & Classifications for Myopathy, Centronuclear, 2

MalaCards integrated aliases for Myopathy, Centronuclear, 2:

Name: Myopathy, Centronuclear, 2 56 52 73
Autosomal Recessive Centronuclear Myopathy 12 52 58 29 6 15 71
Myopathy, Centronuclear, Autosomal Recessive 56 52 13 43 71
Centronuclear Myopathy 2 56 12 15
Ar-Cnm 12 52 58
Cnm2 56 12 73
Centronuclear Myopathy Autosomal Recessive 73
Myotubular Myopathy, Autosomal Recessive 56
Autosomal Recessive Myotubular Myopathy 73
Myopathy, Centronuclear, Type 2 39

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive centronuclear myopathy
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable age at onset (range infancy to 30 years)
see also x-linked and autosomal dominant forms


HPO:

31
myopathy, centronuclear, 2:
Inheritance autosomal recessive inheritance
Onset and clinical course onset


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Myopathy, Centronuclear, 2

NIH Rare Diseases : 52 Autosomal recessive centronuclear myopathy (AR-CNM) is a type of centronuclear myopathy , which is a group of rare, inherited conditions that affect the muscles. In AR-CNM, specifically, affected people generally begin showing signs and symptoms during infancy or early childhood. The features of the condition can vary but may include progressive muscle weakness, foot abnormalities, high-arched palate, scoliosis , ptosis , mild to severe breathing problems, delayed motor milestones and cardiomyopathy (less commonly). Most cases of AR-CNM are caused by changes (mutations ) in the BIN1 gene ; however, some affected families are reported to have mutations in the SPEG, TTN, or RYR1 genes. The condition is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person and may include physical and/or occupational therapy and assistive devices to help with mobility, eating and/or breathing.

MalaCards based summary : Myopathy, Centronuclear, 2, also known as autosomal recessive centronuclear myopathy, is related to myopathy, centronuclear, 5 and centronuclear myopathy, and has symptoms including waddling gait, ophthalmoplegia and facial paresis. An important gene associated with Myopathy, Centronuclear, 2 is BIN1 (Bridging Integrator 1), and among its related pathways/superpathways are Cytoskeletal Signaling and Regulation of actin dynamics for phagocytic cup formation. Affiliated tissues include skeletal muscle and heart, and related phenotypes are high palate and retrognathia

Disease Ontology : 12 A centronuclear myopathy that has material basis in autosomal recessive inheritance.

UniProtKB/Swiss-Prot : 73 Myopathy, centronuclear, 2: A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers.

More information from OMIM: 255200 PS160150

Related Diseases for Myopathy, Centronuclear, 2

Diseases in the Centronuclear Myopathy family:

Myopathy, Centronuclear, 1 Myopathy, Centronuclear, 2
Myopathy, Centronuclear, 4 Myopathy, Centronuclear, 5

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

(show all 31)
# Related Disease Score Top Affiliating Genes
1 myopathy, centronuclear, 5 32.6 SPEG MYF6
2 centronuclear myopathy 32.2 WASL TTN TPM2 SPEG RYR1 MYF6
3 myopathy, congenital 30.7 TTN RYR1 MTM1 DYSF
4 myopathy 30.6 TTN TPM2 SYNE2 SPEG RYR1 MYF6
5 myopathy, centronuclear, 4 10.4 SPEG MYF6 MTM1
6 muscular dystrophy, limb-girdle, autosomal recessive 7 10.4 TTN DYSF
7 specific learning disability 10.4 SYNE2 RYR1
8 autosomal recessive limb-girdle muscular dystrophy type 2j 10.4 TTN DYSF
9 myopathy, centronuclear, 6, with fiber-type disproportion 10.4 MYF6 MTM1
10 muscular dystrophy, limb-girdle, autosomal recessive 8 10.4 TTN DYSF
11 isolated elevated serum creatine phosphokinase levels 10.4 TTN RYR1 DYSF
12 spinocerebellar ataxia, autosomal recessive 3 10.3 WASL WASF2 ACTR2
13 rigid spine muscular dystrophy 1 10.3 TTN RYR1 DYSF
14 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.3 TTN SYNE2 DYSF
15 congenital structural myopathy 10.3 TTN TPM2 RYR1 MTM1
16 muscle tissue disease 10.3 TTN RYR1 MTM1 DYSF
17 muscular dystrophy, limb-girdle, autosomal recessive 6 10.3 TTN DYSF
18 ptosis 10.3 TTN SPEG RYR1 MTM1 BIN1
19 congenital myasthenic syndrome 10.3 TTN TPM2 RYR1 MTM1
20 myopathy, centronuclear, x-linked 10.2 TTN SPEG RYR1 MTM1 BIN1 AMPH
21 muscular disease 10.2 TTN RYR1 MYF6 MTM1 DYSF
22 neuromuscular disease 10.2 TTN RYR1 MTM1 DYSF AMPH
23 cardiac arrhythmia 10.2
24 respiratory failure 10.2
25 hypotonia 10.2
26 wiskott-aldrich syndrome 10.2 WASL WASF2 ACTR3 ACTR2
27 autosomal recessive limb-girdle muscular dystrophy type 2g 10.2 TTN DYSF
28 malignant hyperthermia 10.1 RYR1 MTM1 DYSF
29 autosomal recessive limb-girdle muscular dystrophy type 2a 10.0 TTN DYSF
30 congenital fiber-type disproportion 10.0 TTN TPM2 RYR1 MYF6 MTM1 DYSF
31 myopathy, centronuclear, 1 9.3 WASL WASF2 TPM2 SNAP91 RYR1 MYF6

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



Diseases related to Myopathy, Centronuclear, 2

Symptoms & Phenotypes for Myopathy, Centronuclear, 2

Human phenotypes related to Myopathy, Centronuclear, 2:

58 31 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 58 31 occasional (7.5%) Frequent (79-30%) HP:0000218
2 retrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000278
3 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
4 waddling gait 58 31 frequent (33%) Frequent (79-30%) HP:0002515
5 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
6 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
7 generalized amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003700
8 progressive muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003323
9 gowers sign 58 31 frequent (33%) Frequent (79-30%) HP:0003391
10 difficulty climbing stairs 58 31 frequent (33%) Frequent (79-30%) HP:0003551
11 difficulty running 58 31 frequent (33%) Frequent (79-30%) HP:0009046
12 delayed speech and language development 58 31 occasional (7.5%) Occasional (29-5%) HP:0000750
13 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
14 abnormal heart valve morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001654
15 hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003307
16 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
17 scapular winging 58 31 occasional (7.5%) Occasional (29-5%) HP:0003691
18 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
19 type 1 muscle fiber predominance 58 31 occasional (7.5%) Occasional (29-5%) HP:0003803
20 ophthalmoplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000602
21 left ventricular hypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001712
22 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
23 long face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000276
24 protruding ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0000411
25 areflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001284
26 dysphonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001618
27 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
28 hip contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0003273
29 bifid uvula 58 31 occasional (7.5%) Occasional (29-5%) HP:0000193
30 long fingers 58 31 occasional (7.5%) Occasional (29-5%) HP:0100807
31 centrally nucleated skeletal muscle fibers 58 31 occasional (7.5%) Occasional (29-5%) HP:0003687
32 facial diplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001349
33 emg: decremental response of compound muscle action potential to repetitive nerve stimulation 58 31 occasional (7.5%) Occasional (29-5%) HP:0003403
34 respiratory insufficiency due to muscle weakness 31 occasional (7.5%) HP:0002747
35 facial palsy 58 31 Frequent (79-30%) HP:0010628
36 scoliosis 31 HP:0002650
37 kyphosis 31 HP:0002808
38 abnormal facial shape 58 Occasional (29-5%)
39 neonatal hypotonia 31 HP:0001319
40 flexion contracture 31 HP:0001371
41 feeding difficulties in infancy 31 HP:0008872
42 ptosis 31 HP:0000508
43 emg: myopathic abnormalities 31 HP:0003458
44 ophthalmoparesis 58 Occasional (29-5%)
45 distal muscle weakness 31 HP:0002460
46 proximal muscle weakness 31 HP:0003701
47 axial muscle weakness 31 HP:0003327

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
kyphosis
hyperlordosis

Abdomen Gastrointestinal:
feeding difficulties

Neurologic Central Nervous System:
waddling gait
dysarthria
dysphonia
delayed motor development
mental retardation, mild (1 patient)

Head And Neck Face:
facial muscle weakness
long face (1 patient)

Head And Neck Mouth:
high-arched palate (1 patient)

Chest Ribs Sternum Clavicles And Scapulae:
scapular winging (1 patient)

Skeletal Feet:
pes cavus (1 patient)
pes equinovarus (1 patient)

Muscle Soft Tissue:
neonatal hypotonia
axial muscle weakness
gowers sign
myopathic changes seen on emg
distal muscle weakness may occur
more
Head And Neck Eyes:
ptosis
ophthalmoplegia

Neurologic Peripheral Nervous System:
areflexia

Skeletal:
joint contractures

Respiratory:
respiratory insufficiency due to muscle weakness (1 patient)

Skeletal Hands:
thin hands with long fingers (1 patient)

Clinical features from OMIM:

255200

UMLS symptoms related to Myopathy, Centronuclear, 2:


waddling gait, ophthalmoplegia, facial paresis

MGI Mouse Phenotypes related to Myopathy, Centronuclear, 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.8 ACTR2 ACTR3 AMPH BIN1 GLS MTM1
2 muscle MP:0005369 9.28 BIN1 DYSF MTM1 MYF6 RYR1 SPEG

Drugs & Therapeutics for Myopathy, Centronuclear, 2

Search Clinical Trials , NIH Clinical Center for Myopathy, Centronuclear, 2

Cochrane evidence based reviews: myopathy, centronuclear, autosomal recessive

Genetic Tests for Myopathy, Centronuclear, 2

Genetic tests related to Myopathy, Centronuclear, 2:

# Genetic test Affiliating Genes
1 Autosomal Recessive Centronuclear Myopathy 29 BIN1

Anatomical Context for Myopathy, Centronuclear, 2

MalaCards organs/tissues related to Myopathy, Centronuclear, 2:

40
Skeletal Muscle, Heart

Publications for Myopathy, Centronuclear, 2

Articles related to Myopathy, Centronuclear, 2:

(show all 20)
# Title Authors PMID Year
1
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. 61 56 6
17676042 2007
2
A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine. 56 6
29950440 2018
3
Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation. 56 6
20142620 2010
4
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. 6
25087613 2014
5
Clinical utility gene card for: Centronuclear and myotubular myopathies. 6
22617344 2012
6
The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies. 56
8544184 1995
7
Familial centronuclear myopathy. 56
7211157 1980
8
Familial centronuclear myopathy. 56
5478951 1970
9
Skeletal muscle. Basic and clinical aspects and illustrative new diseases. 56
5342815 1967
10
Familial centronuclear myopathy: a clinical and pathological study. 56
15088533 1967
11
Neuromuscular blocking effects of cisatracurium and its antagonism with neostigmine in a canine model of autosomal-recessive centronuclear myopathy. 61
26582854 2015
12
Neuromuscular blocking effects of vecuronium in dogs with autosomal-recessive centronuclear myopathy. 61
25815571 2015
13
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations. 61
25260562 2014
14
Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy. 61
24549043 2014
15
Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy. 61
23754947 2013
16
Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation. 61
21129173 2010
17
Severe phenotype of a patient with autosomal recessive centronuclear myopathy due to a BIN1 mutation. 61
20476667 2009
18
[Mutations in amphiphysin 2 (BIN1) cause autosomal recessive centronuclear myopathy]. 61
18154705 2007
19
X-linked myotubular and centronuclear myopathies. 61
16042307 2005
20
SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs. 61
15829503 2005

Variations for Myopathy, Centronuclear, 2

ClinVar genetic disease variations for Myopathy, Centronuclear, 2:

6 (show top 50) (show all 178) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BIN1 NM_139343.3(BIN1):c.380_381AC[3] (p.Tyr129fs)short repeat Pathogenic 567114 rs761813363 2:127827598-127827599 2:127070022-127070023
2 BIN1 NM_139343.3(BIN1):c.105G>T (p.Lys35Asn)SNV Pathogenic 8297 rs121909273 2:127834262-127834262 2:127076686-127076686
3 BIN1 NM_139343.3(BIN1):c.451G>A (p.Asp151Asn)SNV Pathogenic 8298 rs121909274 2:127826568-127826568 2:127068992-127068992
4 BIN1 NM_139343.3(BIN1):c.1713G>A (p.Trp571Ter)SNV Pathogenic 158013 rs587783343 2:127806171-127806171 2:127048595-127048595
5 BIN1 NM_139343.3(BIN1):c.1723A>T (p.Lys575Ter)SNV Likely pathogenic 8299 rs121909275 2:127806161-127806161 2:127048585-127048585
6 BIN1 NM_139343.3(BIN1):c.461G>A (p.Arg154Gln)SNV Likely pathogenic 8300 rs267606681 2:127826558-127826558 2:127068982-127068982
7 BIN1 NM_139343.3(BIN1):c.700C>T (p.Arg234Cys)SNV Likely pathogenic 617681 rs777176261 2:127821221-127821221 2:127063645-127063645
8 BIN1 NM_139343.3(BIN1):c.433C>T (p.Arg145Cys)SNV Likely pathogenic 617682 rs1249621033 2:127826586-127826586 2:127069010-127069010
9 BIN1 NM_139343.3(BIN1):c.1132-2A>GSNV Likely pathogenic 566386 rs1295546366 2:127811590-127811590 2:127054014-127054014
10 BIN1 NM_139343.3(BIN1):c.1264-11_1270deldeletion Conflicting interpretations of pathogenicity 420403 rs776737413 2:127809932-127809949 2:127052356-127052373
11 BIN1 NM_139343.3(BIN1):c.698+9C>TSNV Conflicting interpretations of pathogenicity 508462 rs763703697 2:127821500-127821500 2:127063924-127063924
12 BIN1 NM_139343.3(BIN1):c.1629T>G (p.Ala543=)SNV Conflicting interpretations of pathogenicity 530869 rs143258043 2:127808042-127808042 2:127050466-127050466
13 BIN1 NM_139343.3(BIN1):c.1132-7T>CSNV Conflicting interpretations of pathogenicity 158007 rs115938552 2:127811595-127811595 2:127054019-127054019
14 BIN1 NM_139343.3(BIN1):c.675G>A (p.Glu225=)SNV Conflicting interpretations of pathogenicity 766827 2:127821532-127821532 2:127063956-127063956
15 BIN1 NM_139343.3(BIN1):c.30G>A (p.Thr10=)SNV Conflicting interpretations of pathogenicity 158014 rs35535012 2:127864490-127864490 2:127106914-127106914
16 BIN1 NM_139343.3(BIN1):c.1625A>G (p.Lys542Arg)SNV Conflicting interpretations of pathogenicity 158011 rs138047593 2:127808046-127808046 2:127050470-127050470
17 BIN1 NM_139343.3(BIN1):c.1359G>A (p.Pro453=)SNV Conflicting interpretations of pathogenicity 530872 rs201397427 2:127809843-127809843 2:127052267-127052267
18 BIN1 NM_139343.3(BIN1):c.888C>T (p.Ser296=)SNV Conflicting interpretations of pathogenicity 158021 rs114833236 2:127816701-127816701 2:127059125-127059125
19 BIN1 NM_139343.3(BIN1):c.942C>T (p.His314=)SNV Conflicting interpretations of pathogenicity 193876 rs370911793 2:127816647-127816647 2:127059071-127059071
20 BIN1 NM_139343.3(BIN1):c.1263+11C>TSNV Conflicting interpretations of pathogenicity 210527 rs78967885 2:127810987-127810987 2:127053411-127053411
21 BIN1 NM_139343.3(BIN1):c.906C>T (p.Gly302=)SNV Conflicting interpretations of pathogenicity 262480 rs371258305 2:127816683-127816683 2:127059107-127059107
22 BIN1 NM_139343.3(BIN1):c.924C>T (p.Pro308=)SNV Conflicting interpretations of pathogenicity 288057 rs367611371 2:127816665-127816665 2:127059089-127059089
23 BIN1 NM_139343.3(BIN1):c.1473T>C (p.Pro491=)SNV Conflicting interpretations of pathogenicity 331045 rs779756862 2:127808477-127808477 2:127050901-127050901
24 BIN1 NM_139343.3(BIN1):c.1132-22TGC[7]short repeat Conflicting interpretations of pathogenicity 331049 rs748026377 2:127811592-127811593 2:127054016-127054017
25 BIN1 NM_139343.3(BIN1):c.1047G>A (p.Pro349=)SNV Conflicting interpretations of pathogenicity 331051 rs148945502 2:127815133-127815133 2:127057557-127057557
26 BIN1 NM_139343.3(BIN1):c.384G>A (p.Thr128=)SNV Conflicting interpretations of pathogenicity 331055 rs61748158 2:127827598-127827598 2:127070022-127070022
27 BIN1 NM_139343.3(BIN1):c.681G>A (p.Leu227=)SNV Conflicting interpretations of pathogenicity 331053 rs199658397 2:127821526-127821526 2:127063950-127063950
28 BIN1 NM_139343.3(BIN1):c.1143G>A (p.Pro381=)SNV Conflicting interpretations of pathogenicity 331048 rs372360787 2:127811577-127811577 2:127054001-127054001
29 BIN1 NM_139343.3(BIN1):c.1131+9C>TSNV Conflicting interpretations of pathogenicity 331050 rs138606879 2:127815040-127815040 2:127057464-127057464
30 BIN1 NM_139343.3(BIN1):c.1003-11C>GSNV Conflicting interpretations of pathogenicity 383645 rs759676621 2:127815188-127815188 2:127057612-127057612
31 BIN1 NM_139343.3(BIN1):c.*1C>TSNV Conflicting interpretations of pathogenicity 389326 rs770804438 2:127806101-127806101 2:127048525-127048525
32 BIN1 NM_139343.3(BIN1):c.805G>A (p.Gly269Ser)SNV Conflicting interpretations of pathogenicity 388450 rs372072916 2:127819743-127819743 2:127062167-127062167
33 BIN1 NM_139343.3(BIN1):c.925G>A (p.Glu309Lys)SNV Uncertain significance 389673 rs374565677 2:127816664-127816664 2:127059088-127059088
34 BIN1 NM_139343.3(BIN1):c.*413G>ASNV Uncertain significance 331035 rs886054829 2:127805689-127805689 2:127048113-127048113
35 BIN1 NM_139343.3(BIN1):c.*301C>TSNV Uncertain significance 331036 rs886054830 2:127805801-127805801 2:127048225-127048225
36 BIN1 NM_139343.3(BIN1):c.1727A>T (p.Glu576Val)SNV Uncertain significance 331042 rs775119768 2:127806157-127806157 2:127048581-127048581
37 BIN1 NM_139343.3(BIN1):c.1515C>G (p.Thr505=)SNV Uncertain significance 331043 rs375583449 2:127808435-127808435 2:127050859-127050859
38 BIN1 NM_139343.3(BIN1):c.1328C>T (p.Ala443Val)SNV Uncertain significance 331046 rs758494519 2:127809874-127809874 2:127052298-127052298
39 BIN1 NM_139343.3(BIN1):c.-62G>ASNV Uncertain significance 331058 rs886054836 2:127864581-127864581 2:127107005-127107005
40 BIN1 NM_139343.3(BIN1):c.-163T>CSNV Uncertain significance 331060 rs560690864 2:127864682-127864682 2:127107106-127107106
41 BIN1 NM_139343.3(BIN1):c.-197C>ASNV Uncertain significance 331063 rs886054840 2:127864716-127864716 2:127107140-127107140
42 BIN1 NM_139343.2(BIN1):c.-366C>ASNV Uncertain significance 331067 rs886054843 2:127864885-127864885 2:127107309-127107309
43 BIN1 NM_139343.3(BIN1):c.*479deldeletion Uncertain significance 331033 rs367627116 2:127805623-127805623 2:127048047-127048047
44 BIN1 NM_139343.3(BIN1):c.*449G>ASNV Uncertain significance 331034 rs369704619 2:127805653-127805653 2:127048077-127048077
45 BIN1 NM_139343.3(BIN1):c.*214G>ASNV Uncertain significance 331038 rs886054832 2:127805888-127805888 2:127048312-127048312
46 BIN1 NM_139343.3(BIN1):c.*82C>TSNV Uncertain significance 331040 rs111649895 2:127806020-127806020 2:127048444-127048444
47 BIN1 NM_139343.3(BIN1):c.1322C>T (p.Thr441Ile)SNV Uncertain significance 331047 rs886054834 2:127809880-127809880 2:127052304-127052304
48 BIN1 NM_139343.3(BIN1):c.1114G>A (p.Val372Met)SNV Uncertain significance 383228 rs749198133 2:127815066-127815066 2:127057490-127057490
49 BIN1 NM_139343.3(BIN1):c.330G>A (p.Leu110=)SNV Uncertain significance 331056 rs746946704 2:127827652-127827652 2:127070076-127070076
50 BIN1 NM_139343.3(BIN1):c.84+9G>ASNV Uncertain significance 331057 rs762680903 2:127864427-127864427 2:127106851-127106851

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Centronuclear, 2:

73
# Symbol AA change Variation ID SNP ID
1 BIN1 p.Lys35Asn VAR_037425 rs121909273
2 BIN1 p.Asp151Asn VAR_037426 rs121909274
3 BIN1 p.Arg145Cys VAR_081082 rs124962103
4 BIN1 p.Arg154Gln VAR_081083 rs267606681
5 BIN1 p.Arg234Cys VAR_081084 rs777176261

Expression for Myopathy, Centronuclear, 2

Search GEO for disease gene expression data for Myopathy, Centronuclear, 2.

Pathways for Myopathy, Centronuclear, 2

GO Terms for Myopathy, Centronuclear, 2

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.31 WDFY3 WASL WASF2 TTN TPM2 SYNE2
2 cytosol GO:0005829 10.27 WDFY3 WASL WASF2 TTN TPM2 RHOU
3 extracellular exosome GO:0070062 10.11 WASL WASF2 TTN SYNE2 RYR1 DYSF
4 cell GO:0005623 10.01 WASL SYNE2 RYR1 MTM1 ACTR3 ACTR2
5 cell projection GO:0042995 10 WDFY3 WASF2 RHOU MTM1 ACTR3 ACTR2
6 cytoskeleton GO:0005856 9.91 WASL WASF2 TPM2 SYNE2 RHOU BIN1
7 Z disc GO:0030018 9.62 TTN SYNE2 RYR1 BIN1
8 T-tubule GO:0030315 9.58 RYR1 DYSF BIN1
9 lamellipodium GO:0030027 9.55 WASL WASF2 DYSF ACTR3 ACTR2
10 actin cortical patch GO:0030479 9.49 ACTR3 ACTR2
11 Arp2/3 protein complex GO:0005885 9.48 ACTR3 ACTR2
12 actin cap GO:0030478 9.37 WASL ACTR2
13 I band GO:0031674 9.26 TTN RYR1 MTM1 BIN1
14 actin cytoskeleton GO:0015629 9.17 WASL WASF2 TPM2 BIN1 AMPH ACTR3

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 actin cytoskeleton organization GO:0030036 9.81 WASL WASF2 RHOU ACTR2
2 Fc-gamma receptor signaling pathway involved in phagocytosis GO:0038096 9.76 WASL WASF2 ACTR3 ACTR2
3 ephrin receptor signaling pathway GO:0048013 9.72 WASL ACTR3 ACTR2
4 muscle contraction GO:0006936 9.71 TTN TPM2 RYR1 DYSF
5 establishment or maintenance of cell polarity GO:0007163 9.67 RHOU ACTR3 ACTR2
6 membrane organization GO:0061024 9.65 WASL BIN1 AMPH ACTR3 ACTR2
7 endocytosis GO:0006897 9.63 WASL WASF2 SNAP91 RHOU BIN1 AMPH
8 Rac protein signal transduction GO:0016601 9.59 WASF2 RHOU
9 Arp2/3 complex-mediated actin nucleation GO:0034314 9.58 ACTR3 ACTR2
10 actin filament-based movement GO:0030048 9.58 WASL WASF2
11 muscle cell differentiation GO:0042692 9.57 SPEG BIN1
12 vesicle budding from membrane GO:0006900 9.56 WASL SNAP91
13 positive regulation of Arp2/3 complex-mediated actin nucleation GO:2000601 9.54 WASL WASF2
14 T-tubule organization GO:0033292 9.52 DYSF BIN1
15 positive regulation of lamellipodium assembly GO:0010592 9.5 WASF2 ACTR3 ACTR2
16 asymmetric cell division GO:0008356 9.48 ACTR3 ACTR2
17 meiotic chromosome movement towards spindle pole GO:0016344 9.43 ACTR3 ACTR2
18 meiotic cytokinesis GO:0033206 9.37 ACTR3 ACTR2
19 spindle localization GO:0051653 9.13 WASL ACTR3 ACTR2
20 actin filament organization GO:0007015 9.1 WASL TTN TPM2 RHOU ACTR3 ACTR2

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.3 WDFY3 WASL WASF2 TTN SYNE2 SPEG
2 protease binding GO:0002020 9.5 TTN RYR1 BIN1
3 phospholipid binding GO:0005543 9.46 SNAP91 DYSF BIN1 AMPH
4 actin binding GO:0003779 9.43 WASL WASF2 TPM2 SYNE2 ACTR3 ACTR2
5 1-phosphatidylinositol binding GO:0005545 9.26 WDFY3 SNAP91
6 actin filament binding GO:0051015 9.17 WASL TTN TPM2 SYNE2 BIN1 ACTR3

Sources for Myopathy, Centronuclear, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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