Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: SPTAN1EnsemblGeneIds (GRCh38): ENSG00000197694
EnsemblGeneIds (GRCh37): ENSG00000197694
OMIM: 182810, Gene2Phenotype
SPTAN1 is in 12 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: There is sufficient evidence available for the association of monoallelic SPTAN1 variants with early-onset distal myopathy. Hence, this gene can be promoted to green rating on this panel in the next GMS update.Created: 9 Jun 2026, 7:46 p.m. | Last Modified: 9 Jun 2026, 7:46 p.m.
Panel Version: 6.3
PMID:40023774 (2025) reported 20 patients from 14 families with heterozygous LoF SPTAN1 variants and early-onset distal myopathy (9x de novo and 5x dominantly inherited). The age of onset was 0-5 years in 14 patients, 6-10 in two, 11-15 in one and not reported in three. Exome sequencing detected 9 frameshift, 4 nonsense, and 1 splice-acceptor variant in SPTAN1. Individuals presented with gait disturbance and foot abnormalities, including pes cavus and distal arthrogryposis. Muscle biopsy revealed myopathic changes in seven patients.
PMID:40999194 (2026) reported a family affected with childhood onset distal muscle weakness with a heterozygous chromosome 9q34 deletion encompassing the SPTAN1 gene, identified via exome sequencing. The deletion segregated with disease in four individuals, and was non-penetrant in two. Affected individuals presented with distal weakness in lower limbs (4/4) as well as pes cavus and hammer toes (2/4) or Distal arthrogryposis (2/4). Electromyography, muscle MRI and muscle biopsy showed myopathic disease.
The deletion encompasses SPTAN1, DYNC2I2, and a part of GLE1. Authors pose that SPTAN1 deletion is responsible for disease, as DYNC2I2 and GLE1 are not predicted to be dosage sensitive. However, the effect of other genes being deleted cannot be decoupled.
SPTAN1 is not yet associated with distal myopathy in OMIM (accessed 09 June 2026).
Sources: LiteratureCreated: 9 Jun 2026, 7:45 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
distal myopathy, MONDO:0018949
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- distal myopathy, MONDO:0018949
- Tags
- OMIM
- 182810
- Clinvar variants
- Variants in SPTAN1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- DDG2P
- Hereditary neuropathy or pain disorder
- Congenital myopathy
- Ataxia and cerebellar anomalies - narrow panel
- Intellectual disability
- Fetal anomalies
- Distal myopathies
- Early onset or syndromic epilepsy
- Childhood onset hereditary spastic paraplegia
- Adult onset hereditary spastic paraplegia
History Filter Activity
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: sptan1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: SPTAN1 was added gene: SPTAN1 was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: Literature Q2_26_promote_green tags were added to gene: SPTAN1. Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPTAN1 were set to 40023774; 40999194 Phenotypes for gene: SPTAN1 were set to distal myopathy, MONDO:0018949 Review for gene: SPTAN1 was set to GREEN