Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: ATP8A2

Amber List (moderate evidence)

ATP8A2 (ATPase phospholipid transporting 8A2)
EnsemblGeneIds (GRCh38): ENSG00000132932
EnsemblGeneIds (GRCh37): ENSG00000132932
OMIM: 605870, Gene2Phenotype
ATP8A2 is in 9 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 615268
OMIM
605870
Clinvar variants
Variants in ATP8A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

19 Dec 2018, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene ATP8A2 were changed from 22892528 to PMID: 22892528

19 Dec 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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