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  3. ATP2B3
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Ataxia - paediatric

Gene: ATP2B3

Amber List (moderate evidence)
ATP2B3 (ATPase plasma membrane Ca2+ transporting 3)
EnsemblGeneIds (GRCh38): ENSG00000067842
EnsemblGeneIds (GRCh37): ENSG00000067842
OMIM: 300014, Gene2Phenotype
ATP2B3 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Comment on list classification: 2 apparently unrelated families with the same variant and functional assessment of this variant
Created: 28 Dec 2019, 3:26 a.m. | Last Modified: 28 Dec 2019, 3:26 a.m.
Panel Version: 0.38
Sources: Expert list
Created: 28 Dec 2019, 3:20 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Spinocerebellar ataxia, X-linked 1, MIM#302500

Publications

Created: 28 Dec 2019, 3:20 a.m.

Panel version: Imported from Ataxia_Paediatric panel version 0.36

Bryony Thompson (Royal Melbourne Hospital)

I don't know

2 apparently unrelated families with the same variant and functional assessment of this variant
Created: 27 Dec 2019, 4:26 a.m. | Last Modified: 27 Dec 2019, 4:26 a.m.
Panel Version: 0.5

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Publications

Created: 27 Dec 2019, 4:26 a.m.
Last Modified: 27 Dec 2019, 4:26 a.m.
Panel version: 0.5

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • Expert list
  • Expert Review Amber
  • Royal Melbourne Hospital
  • GeneReviews
Phenotypes
  • Spinocerebellar ataxia, X-linked 1
OMIM
300014
Clinvar variants
Variants in ATP2B3
Penetrance
None
Panels with this gene

History Filter Activity

27 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: atp2b3 has been classified as Amber List (Moderate Evidence).

27 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: atp2b3 has been classified as Amber List (Moderate Evidence).

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ATP2B3 was added gene: ATP2B3 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital Mode of inheritance for gene: ATP2B3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: ATP2B3 were set to Spinocerebellar ataxia, X-linked 1