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  3. ATP8A2
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Ataxia - paediatric

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

Zornitza Stark (Victorian Clinical Genetics Services; 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.
Sources: Expert list
Created: 23 Nov 2019, 9:34 a.m. | Last Modified: 12 Sep 2020, 2 a.m.
Panel Version: 0.228

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 23 Nov 2019, 9:34 a.m.
Last Modified: 12 Sep 2020, 2 a.m.
Panel version: Imported from Ataxia_VCGS panel version Imported from Intellectual Disability syndromic and nonsyndromic_VCGS panel version 0.38

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268
OMIM
605870
Clinvar variants
Variants in ATP8A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2020, 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).

17 Apr 2020, 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 dysequilibirum syndrome 4 to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268

17 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ATP8A2 were set to

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ATP8A2 was added gene: ATP8A2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital 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 dysequilibirum syndrome 4