Ataxia and cerebellar anomalies - narrow panel
Gene: ATP2B3
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
Gene: atp2b3 has been classified as Amber List (Moderate Evidence).
Publications for gene: ATP2B3 were set to
Phenotypes for gene: ATP2B3 were changed from Spinocerebellar ataxia, X-linked 1 to ?Spinocerebellar ataxia, X-linked 1, OMIM:302500
Mode of inheritance for gene: ATP2B3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Tag Q2_24_promote_green tag was added to gene: ATP2B3.
Rebecca Foulger: Comment on list classification
gene: ATP2B3 was added gene: ATP2B3 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: 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