Ataxia and cerebellar anomalies - narrow panel

Gene: ATP2B3

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 26 Sep 2024, 12:35 p.m. | Last Modified: 26 Sep 2024, 12:35 p.m.

Panel Version: 6.3

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Green List (high evidence)

Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.

Created: 18 Apr 2024, 9:47 p.m. | Last Modified: 18 Apr 2024, 9:47 p.m.

Panel Version: 4.63

There are six unrelated cases reported with five different 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. There is also functional evidence available.

This gene has already been associated with ataxia in OMIM (MIM #302500), but not yet with any phenotypes in Gene2Phenotype.

Created: 18 Apr 2024, 9:41 p.m. | Last Modified: 18 Apr 2024, 9:45 p.m.

Panel Version: 4.59

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