Hereditary ataxia
Gene: GPAA1
GPAA1 (glycosylphosphatidylinositol anchor attachment 1)
EnsemblGeneIds (GRCh38): ENSG00000197858
EnsemblGeneIds (GRCh37): ENSG00000197858
OMIM: 603048, Gene2Phenotype
GPAA1 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000197858
EnsemblGeneIds (GRCh37): ENSG00000197858
OMIM: 603048, Gene2Phenotype
GPAA1 is in 9 panels
1 review
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM. At least 7 variants reported in 10 patients from 5 unrelated families with Glycosylphosphatidylinositol biosynthesis defect 15 (617810). The patients ranged in age from 3.8 to 30 years. All had mild to moderate intellectual disability, together with other features of developmental delay and cerebellar atrophy, which manifests as gait ataxia and dysarthria.Created: 15 Mar 2018, 1:38 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycosylphosphatidylinositol biosynthesis defect 15, 617810
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Glycosylphosphatidylinositol biosynthesis defect 15, 617810
- OMIM
- 603048
- Clinvar variants
- Variants in GPAA1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
15 Mar 2018, Gel status: 3
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
15 Mar 2018, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)GPAA1 was added to Hereditary ataxia panel. Sources: Literature
15 Mar 2018, Gel status: 1
Created
Sarah Leigh (Genomics England Curator)GPAA1 was created by Sarah Leigh