Limb-girdle Muscular Dystrophy(LGMD)
An Autosomal dominant, Autosomal recessive mode(s) within the Neuromuscular disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive 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 | DYSF/8291 | dysferlin | 2p13.2 | Chr2, NC_000002.12 (71453561..71686763) |
233203 nt | 58 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | ANO5/203859 | anoctamin 5 | 11p14.3 | Chr11, NC_000011.10 (22192473..22283357) |
90885 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | CAPN3/825 | calpain 3 | 15q15.1 | Chr15, NC_000015.10 (42359501..42412317) |
52817 nt | 26 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | TTN/7273 | titin | 2q31.2 | Chr2, NC_000002.12 (178525989..178807423, complement) |
281435 nt | 364 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | SGCB/6443 | sarcoglycan beta | 4q12 | Chr4, NC_000004.12 (52020706..52038299, complement) |
17594 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | SGCD/6444 | sarcoglycan delta | 5q33.3 | Chr5, NC_000005.10 (155727832..156767788) |
1039957 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | MYOT/9499 | myotilin | 5q31.2 | Chr5, NC_000005.10 (137867860..137887851) |
19992 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | POMT1/10585 | protein O-mannosyltransferase 1 | 9q34.13 | Chr9, NC_000009.12 (131502918..131523799) |
20882 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | SGCG/6445 | sarcoglycan gamma | 13q12.12 | Chr13, NC_000013.11 (23160508..23325162) |
164655 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | POMK/84197 | protein O-mannose kinase | 8p11.21 | Chr8, NC_000008.11 (43093515..43123434) |
29920 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |