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Mackenzie's Mission_Reproductive Carrier Screening

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

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4
OMIM
605870
Clinvar variants
Variants in ATP8A2
Penetrance
None
Panels with this gene

History Filter Activity

19 Apr 2020, 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 Mackenzie's Mission_Reproductive Carrier Screening. 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