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  3. ATP8A2
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Cerebellar hypoplasia

Gene: ATP8A2

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

1 review

Alice Gardham (Genomics England)

I don't know

Only reported in one family with CAMRQ and cerebellar atrophy. Recognised on G2P and on UKGTN hereditary ataxia panel
Created: 16 Nov 2016, 10:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 615268

Publications

Created: 16 Nov 2016, 10:31 a.m.

Panel version: 0.97

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 615268
OMIM
605870
Clinvar variants
Variants in ATP8A2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 2

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

22/02/2017: Panel revised after internal clinical review and further curation.

16 Nov 2016, Gel status: 2

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Amber List (Moderate Evidence).

16 Nov 2016, Gel status: 0

Added New Source

Alice Gardham (Genomics England)

ATP8A2 was added to Cerebellar hypoplasiapanel. Sources: Literature

16 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

ATP8A2 was created by agardham