Hereditary ataxia with onset in adulthood
Gene: ATP2B3
There are six unrelated cases reported with X-linked recessive variants in ATP2B3 gene and with a phenotype comprising ataxia. However, the onset of the disease was during childhood in three of these cases, while detailed clinical information was not available for the other three cases.Created: 18 Apr 2024, 9:34 p.m. | Last Modified: 18 Apr 2024, 9:36 p.m.
Panel Version: 4.34
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
?Spinocerebellar ataxia, X-linked 1, OMIM:302500
Publications
36207321; 28807751; 25953895 describe 5 cases with ataxia + functional evidence, so enough evidence for green ratingCreated: 15 Dec 2022, 11:42 a.m. | Last Modified: 15 Dec 2022, 11:42 a.m.
Panel Version: 3.5
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Ataxia
Publications
3 DM for cerebellar ataxia in HGMD but only 1 report on OMIM - but this report includes functional studies.Created: 27 Apr 2019, 7:39 p.m.
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Single family in original paper, limited segregation but consistent with x-linked inheritance and functional evidence provided for the single variant. Second missense variant reported in PMID 28807751 with functional evidence, however compound het PMM2 variants reported in same patient - not enough evidence for pathogenicityCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
X-linked spinocerebellar ataxia, 302500
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Phenotypes for gene: ATP2B3 were changed from Spinocerebellar ataxia, X-linked 1; X-linked spinocerebellar ataxia, 302500 to ?Spinocerebellar ataxia, X-linked 1, OMIM:302500
Publications for gene: ATP2B3 were set to
Mode of inheritance for gene: ATP2B3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Gene: atp2b3 has been classified as Amber List (Moderate Evidence).
Gene: atp2b3 has been classified as Amber List (Moderate Evidence).
Source London North GMS was added to ATP2B3.
Added phenotypes X-linked spinocerebellar ataxia, 302500 for gene: ATP2B3
Source NHS GMS was added to ATP2B3.
Source Wessex and West Midlands GLH was added to ATP2B3.
Louise Daugherty: Comment on phenotypes: Implica
gene: ATP2B3 was added gene: ATP2B3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ATP2B3 was set to Unknown Phenotypes for gene: ATP2B3 were set to Spinocerebellar ataxia, X-linked 1