Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: SPTAN1

Green List (high evidence)

SPTAN1 (spectrin alpha, non-erythrocytic 1)
EnsemblGeneIds (GRCh38): ENSG00000197694
EnsemblGeneIds (GRCh37): ENSG00000197694
OMIM: 182810, Gene2Phenotype
SPTAN1 is in 11 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

20 cases from 14 families with early childhood onset distal myopathy with heterozygous loss of function variants.
Sources: Literature
Created: 3 Mar 2025, 9:25 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
distal myopathy

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

History Filter Activity

3 Mar 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: sptan1 has been classified as Green List (High Evidence).

3 Mar 2025, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: SPTAN1 were changed from distal myopathy to distal myopathy MONDO:0018949

3 Mar 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: sptan1 has been classified as Green List (High Evidence).

3 Mar 2025, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: SPTAN1 was added gene: SPTAN1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPTAN1 were set to 40023774 Phenotypes for gene: SPTAN1 were set to distal myopathy Review for gene: SPTAN1 was set to GREEN gene: SPTAN1 was marked as current diagnostic