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Prepair 1000+

Gene: ATP8A2

Green List (high evidence)

ATP8A2 (ATPase phospholipid transporting 8A2)
EnsemblGeneIds (GRCh38): ENSG00000132932
EnsemblGeneIds (GRCh37): ENSG00000132932
OMIM: 605870, Gene2Phenotype
ATP8A2 is in 7 panels

1 review

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

10 individuals from six unrelated families reported with bi-allelic variants in this gene and neurological phenotypes including intellectual disability. Onset at birth (OMIM)
Created: 7 Aug 2024, 7:10 a.m. | Last Modified: 7 Aug 2024, 7:10 a.m.
Panel Version: 1.82

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 (MIM#615268)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 (MIM#615268)
OMIM
605870
Clinvar variants
Variants in ATP8A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp8a2 has been classified as Green List (High Evidence).

8 Aug 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ATP8A2 were changed from ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 to Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 (MIM#615268)

8 Aug 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ATP8A2 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ATP8A2 was added gene: ATP8A2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ATP8A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP8A2 were set to ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4