Hereditary ataxia with onset in adulthood

Gene: ATP2B3

I don't know

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

• 25953895
• 28807751
• 36207321

36207321; 28807751; 25953895 describe 5 cases with ataxia + functional evidence, so enough evidence for green rating

Created: 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

• 36207321
• 28807751
• 25953895

I don't know

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.

I don't know

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.

I don't know

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 pathogenicity

Created: 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