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Congenital myopathy v7.61 SPTAN1 Achchuthan Shanmugasundram changed review comment from: 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).; to: 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. All affected participants presented with early childhood onset of gait and foot abnormalities. In general, participants showed stable or very slowly progressive (9/20) distal muscle weakness involving the foot (19/20) and toe extensors (15/20). 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).
Congenital myopathy v7.52 SPTAN1 Achchuthan Shanmugasundram changed review comment from: 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).; to: 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).
Congenital myopathy v7.52 SPTAN1 Achchuthan Shanmugasundram Classified gene: SPTAN1 as Amber List (moderate evidence)
Congenital myopathy v7.52 SPTAN1 Achchuthan Shanmugasundram Added comment: 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.
Congenital myopathy v7.52 SPTAN1 Achchuthan Shanmugasundram Gene: sptan1 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v7.51 SPTAN1 Achchuthan Shanmugasundram Tag Q2_26_promote_green tag was added to gene: SPTAN1.
Tag Q2_26_NHS_review tag was added to gene: SPTAN1.
Congenital myopathy v7.51 SPTAN1 Achchuthan Shanmugasundram Phenotypes for gene: SPTAN1 were changed from to distal myopathy, MONDO:0018949
Congenital myopathy v7.50 SPTAN1 Achchuthan Shanmugasundram Publications for gene: SPTAN1 were set to
Congenital myopathy v7.49 SPTAN1 Achchuthan Shanmugasundram reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 40023774, 40999194; Phenotypes: distal myopathy, MONDO:0018949; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myopathy v7.14 SPTAN1 Anna Sarkozy reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40999194, 40023774; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myopathy v7.13 SPTAN1 Arina Puzriakova Classified gene: SPTAN1 as No list
Congenital myopathy v7.13 SPTAN1 Arina Puzriakova Gene: sptan1 has been removed from the panel.
Congenital myopathy v7.12 SPTAN1 Arina Puzriakova 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