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Regression
Gene: ATP2B3

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

2 apparently unrelated families with the same variant and functional assessment of this variant.
Created: 28 Dec 2019, 3:16 a.m. | Last Modified: 28 Dec 2019, 3:16 a.m.

Panel Version: 0.31

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, 3:16 a.m.
Last Modified: 28 Dec 2019, 3:16 a.m.
Panel version: 0.31

Details

Mode of Inheritance

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

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Spinocerebellar ataxia, X-linked 1, MIM#302500

OMIM

Clinvar variants

Variants in ATP2B3

Penetrance

None

Publications

Panels with this gene

History Filter Activity

28 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Dec 2019, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ATP2B3 were changed from Spinocerebellar ataxia, X-linked 1, MIM#302500 to Spinocerebellar ataxia, X-linked 1, MIM#302500

28 Dec 2019, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ATP2B3 were changed from to Spinocerebellar ataxia, X-linked 1, MIM#302500

28 Dec 2019, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ATP2B3 were set to

28 Dec 2019, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ATP2B3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

28 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ATP2B3 was added gene: ATP2B3 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ATP2B3 was set to Unknown