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Genetic Epilepsy

Gene: ATP2B1

Green List (high evidence)
ATP2B1 (ATPase plasma membrane Ca2+ transporting 1)
EnsemblGeneIds (GRCh38): ENSG00000070961
EnsemblGeneIds (GRCh37): ENSG00000070961
OMIM: 108731, Gene2Phenotype
ATP2B1 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual developmental disorder, autosomal dominant 66, MIM# 619910

Created: 15 Jun 2022, 9:05 p.m.
Last Modified: 15 Jun 2022, 9:05 p.m.
Panel version: 0.1621

Daniel Flanagan (Victorian Clinical Genetics Services)

Green List (high evidence)

12 unrelated individuals with variants in ATP2B1 and an overlapping phenotype of mild to moderate global development delay. Additional common symptoms include autism (5), dissimilar forms of seizures (6), and distal limb abnormalities (4). 9 variants proven to be de novo, other 3 variants had unknown inheritance. 9 missense and 3 nonsense reported. Supporting functional analysis for missense.
Sources: Expert list
Created: 7 Apr 2022, 1:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder, MONDO:0700092, ATP2B1-related

Publications

Created: 7 Apr 2022, 1:52 a.m.

Panel version: 0.1539

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 66, MIM# 619910
OMIM
108731
Clinvar variants
Variants in ATP2B1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jun 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ATP2B1 were changed from Neurodevelopmental disorder, MONDO:0700092, ATP2B1-related to Intellectual developmental disorder, autosomal dominant 66, MIM# 619910

7 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp2b1 has been classified as Green List (High Evidence).

7 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp2b1 has been classified as Green List (High Evidence).

7 Apr 2022, Gel status: 0

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

Daniel Flanagan (Victorian Clinical Genetics Services)

gene: ATP2B1 was added gene: ATP2B1 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: ATP2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP2B1 were set to PMID: 35358416 Phenotypes for gene: ATP2B1 were set to Neurodevelopmental disorder, MONDO:0700092, ATP2B1-related Review for gene: ATP2B1 was set to GREEN