Ataxia and cerebellar anomalies - narrow panel
Gene: ATP8A2
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 21 variants reported in 17 unrelated cases with varying degrees of severity, together with supportive expression and functional studies (PMID 31612321).Created: 6 Apr 2021, 7:24 p.m. | Last Modified: 6 Apr 2021, 7:24 p.m.
Panel Version: 2.70
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 6 Apr 2021, 5:15 p.m. | Last Modified: 6 Apr 2021, 5:15 p.m.
Panel Version: 2.66
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
10 individuals from six unrelated families reported with bi-allelic variants in this gene and neurological phenotypes including intellectual disability and cerebellar ataxia.Created: 12 Sep 2020, 2 a.m. | Last Modified: 12 Sep 2020, 2 a.m.
Panel Version: 2.12
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268
Publications
Tag Q2_21_rating was removed from gene: ATP8A2.
Source Expert Review Green was added to ATP8A2. Source NHS GMS was added to ATP8A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: ATP8A2 were set to 22892528; 29531481; 30012219; 31612321; 27679995
Publications for gene: ATP8A2 were set to 22892528; 29531481; 30012219; 31612321
Publications for gene: ATP8A2 were set to 22892528; 30012219; 31612321
Publications for gene: ATP8A2 were set to 22892528; 31612321
Tag Q2_21_rating tag was added to gene: ATP8A2.
Gene: atp8a2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: ATP8A2 were changed from Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 615268 to ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 OMIM:615268; cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 MONDO:0014104
Publications for gene: ATP8A2 were set to PMID: 22892528
Rebecca Foulger: Comment on list classification
Publications for gene ATP8A2 were changed from 22892528 to PMID: 22892528
gene: ATP8A2 was added gene: ATP8A2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber Mode of inheritance for gene: ATP8A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP8A2 were set to 22892528 Phenotypes for gene: ATP8A2 were set to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 615268