X-linked Myopathy With Excessive Autophagy(Autophagic vacuolar myopathy) Explore Disorder's Alias
An X-linked recessive mode(s) within the Neuromuscular disorders category
Candidate Gene Information
An X-linked 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 | VMA21/203547 | vacuolar ATPase assembly factor VMA21 | Xq28 | ChrX, NC_000023.11 (151396595..151409364) |
12770 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities