Congenital myopathy
Gene: SPTAN1
SPTAN1 (spectrin alpha, non-erythrocytic 1)
EnsemblGeneIds (GRCh38): ENSG00000197694
EnsemblGeneIds (GRCh37): ENSG00000197694
OMIM: 182810, Gene2Phenotype
SPTAN1 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000197694
EnsemblGeneIds (GRCh37): ENSG00000197694
OMIM: 182810, Gene2Phenotype
SPTAN1 is in 11 panels
1 review
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Removed
- NHS GMS
- OMIM
- 182810
- Clinvar variants
- Variants in SPTAN1
- Penetrance
- None
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Congenital myopathy
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Distal myopathies
- Fetal anomalies
- Childhood onset hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Adult onset hereditary spastic paraplegia
History Filter Activity
22 May 2026, Gel status: 0
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: sptan1 has been removed from the panel.
22 May 2026, Gel status: 1
Created, Added New Source, Set mode of inheritance
Arina Puzriakova (Genomics England Curator)gene: SPTAN1 was added gene: SPTAN1 was added to Congenital myopathy. Sources: NHS GMS Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted