FSHMD1A
Genefacioscapulohumeral muscular dystrophy 1A
Gene summary
No gene description available in the current model. Review primary literature for detailed gene function and characteristics.
- FMD
- FSHD
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
External References & Databases
GenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
Clinical Genomic Database (CGD)
Manifestation: Audiologic/Otolaryngologic; Cardiovascular; Musculoskeletal; Ophthalmologic
Intervention: Cardiovascular; Ophthalmologic
Rationale: Awareness and surveillance of cardiac manifestations, including arrhythmias (eg, with EKG), may allow early treatment, which may ameliorate morbidity and mortality; Individuals may present with ophthalmologic anomalies (including retinal telangiectasia, which may rarely progress to Coats disease), and recognition may allow surveillance and prompt management
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to FSHMD1A variants in ClinVar
No annotated ClinVar phenotypes.
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript . Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 | 0 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| No transcripts match your selected source or search query. | ||||