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Ataxia - paediatric

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)

15/31 individuals from 26 unrelated families carrying heterozygous variants in SPTAN1 manifested ataxia, usually with HSP. There were 2 patients with pure ataxia. Suggested that the mechanism of disease for these heterozygous variants was suspected to be dominant negative. Variable age of onset from paediatric to adult onset.
Sources: Literature
Created: 3 Mar 2025, 9:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia MONDO:0957813

Publications

Mode of pathogenicity
Other

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia MONDO:0957813
OMIM
182810
Clinvar variants
Variants in SPTAN1
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

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

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, Set mode of pathogenicity

Bryony Thompson (Royal Melbourne Hospital)

gene: SPTAN1 was added gene: SPTAN1 was added to Ataxia - paediatric. Sources: Literature Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPTAN1 were set to 36331550 Phenotypes for gene: SPTAN1 were set to Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia MONDO:0957813 Mode of pathogenicity for gene: SPTAN1 was set to Other Review for gene: SPTAN1 was set to GREEN gene: SPTAN1 was marked as current diagnostic