Congenital Myopathy With Fiber Type Disproportion(CFTDM) Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive, X-linked dominant mode(s) within the Neuromuscular disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive, X-linked dominant 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 | SELENON/57190 | selenoprotein N | 1p36.11 | Chr1, NC_000001.11 (25800193..25818221) |
18029 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | 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 |
| 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 | 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 |
| 5 | 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 |
| 6 | 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 |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||