Congenital Myopathy
An Unknown mode(s) within the Neuromuscular disorders category
Candidate Gene Information
An Unknown mode(s) within the Neuromuscular disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | TPM3/7170 | tropomyosin 3 | 1q21.3 | Chr1, NC_000001.11 (154155308..154192100, complement) |
36793 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | TPM2/7169 | tropomyosin 2 | 9p13.3 | Chr9, NC_000009.12 (35681993..35690056, complement) |
8064 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | ACTA1/58 | actin alpha 1, skeletal muscle | 1q42.13 | Chr1, NC_000001.11 (229431245..229434094, complement) |
2850 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | MEGF10/84466 | multiple EGF like domains 10 | 5q23.2 | Chr5, NC_000005.10 (127229300..127461222) |
231923 nt | 31 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | MYH7/4625 | myosin heavy chain 7 | 14q11.2 | Chr14, NC_000014.9 (23412740..23435660, complement) |
22921 nt | 40 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | RYR1/6261 | ryanodine receptor 1 | 19q13.2 | Chr19, NC_000019.10 (38433691..38587564) |
153874 nt | 106 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | HACD1/9200 | 3-hydroxyacyl-CoA dehydratase 1 | 10p12.33 | Chr10, NC_000010.11 (17589032..17617374, complement) |
28343 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | SELENON/57190 | selenoprotein N | 1p36.11 | Chr1, NC_000001.11 (25800193..25818221) |
18029 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | CCDC78/124093 | coiled-coil domain containing 78 | 16p13.3 | Chr16, NC_000016.10 (722582..726880, complement) |
4299 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | MYL1/4632 | myosin light chain 1 | 2q34 | Chr2, NC_000002.12 (210290150..210315174, complement) |
25025 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 11 | CACNA1S/779 | calcium voltage-gated channel subunit alpha1 S | 1q32.1 | Chr1, NC_000001.11 (201039512..201112426, complement) |
72915 nt | 44 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 12 | MYL2/4633 | myosin light chain 2 | 12q24.11 | Chr12, NC_000012.12 (110910845..110921449, complement) |
10605 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 13 | TNNC2/7125 | troponin C2, fast skeletal type | 20q13.12 | Chr20, NC_000020.11 (45823214..45833306, complement) |
10093 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 14 | DNAJB4/11080 | DnaJ heat shock protein family (Hsp40) member B4 | 1p31.1 | Chr1, NC_000001.11 (77979175..78017964) |
38790 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 15 | SCN4A/6329 | sodium voltage-gated channel alpha subunit 4 | 17q23.3 | Chr17, NC_000017.11 (63938554..63972918, complement) |
34365 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 16 | ASCC3/10973 | activating signal cointegrator 1 complex subunit 3 | 6q16.3 | Chr6, NC_000006.12 (100508194..100881329, complement) |
373136 nt | 44 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 17 | MYPN/84665 | myopalladin | 10q21.3 | Chr10, NC_000010.11 (68087897..68212017) |
124121 nt | 28 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||