FSHMD1A

facioscapulohumeral muscular dystrophy 1A

Basic information

Previous symbols: [ "FMD", "FSHD" ]

Links

∙ ∙ ∙ HGNC:3966 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Facioscapulohumeral muscular dystrophy 1A	AD/AR	Cardiovascular; Ophthalmologic	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	Audiologic/Otolaryngologic; Cardiovascular; Musculoskeletal; Ophthalmologic	15411118; 6704043; 6745940; 3580827; 1927871; 1363881; 7987304; 9506542; 10631134; 14557558; 15154112; 16178028; 17229919; 17563001; 20301616; 21984394; 22217918; 22482803

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FSHMD1A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FSHMD1A gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP