Hereditary ataxia with onset in adulthood
Gene: ATP8A2
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 5:26 p.m. | Last Modified: 9 Mar 2022, 5:26 p.m.
Panel Version: 2.144
Zornitza Stark has commented this gene is responsible for a congenital condition and not for an adult onset phenotype. Table 1 in PMID 31612321 provides a review of the reported variants and their associated clinical features, although cases are seen after adolescence, where data is available the onset is before 5 years of age. However, the report of a 27 year old male, without age of onset data (PMID: 22892528), provides some justification for this gene being green on this adult onset panel.
Created: 19 May 2021, 11:02 a.m. | Last Modified: 15 Feb 2022, 3:25 p.m.
Panel Version: 2.139
This is a congenital disorder.Created: 12 Sep 2020, 2:01 a.m. | Last Modified: 12 Sep 2020, 2:01 a.m.
Panel Version: 2.9
Phenotypes
Cerebellar ataxia, mental retardation and dysequilibirum syndrome 4
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.
Looks like three families across the published papers - caution advised as no functional evidence producedCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar ataxia, mental retardation and dysequilibirum syndrome 4
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_phenotype was removed from gene: ATP8A2. Tag Q2_21_expert_review was removed from gene: ATP8A2.
Source Expert Review Amber was added to ATP8A2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Tag Q2_21_phenotype tag was added to gene: ATP8A2. Tag Q2_21_expert_review tag was added to gene: ATP8A2.
Publications for gene: ATP8A2 were set to 22892528; 29531481; 30012219; 31612321
Publications for gene: ATP8A2 were set to 22892528; 31612321; 30012219
Publications for gene: ATP8A2 were set to 22892528; 31612321
Phenotypes for gene: ATP8A2 were changed from Cerebellar ataxia, mental retardation and dysequilibirum syndrome 4 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 22892528
Gene: atp8a2 has been classified as Green List (High Evidence).
Added phenotypes Cerebellar ataxia, mental retardation and dysequilibirum syndrome 4 for gene: ATP8A2
Source NHS GMS was added to ATP8A2.
Source Wessex and West Midlands GLH was added to ATP8A2.
Louise Daugherty: Comment on phenotypes: Implica
gene: ATP8A2 was added gene: ATP8A2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ATP8A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP8A2 were set to 22892528