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Deafness_Isolated

Gene: ATP2B2

Green List (high evidence)
ATP2B2 (ATPase plasma membrane Ca2+ transporting 2)
EnsemblGeneIds (GRCh38): ENSG00000157087
EnsemblGeneIds (GRCh37): ENSG00000157087
OMIM: 108733, Gene2Phenotype
ATP2B2 is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Five families reported with mono-allelic variants, either de novo (2) or segregating with disease (3). Prior literature associating variants as modifiers of deafness caused by CDH23.
Created: 25 Sep 2020, 10 a.m. | Last Modified: 25 Sep 2020, 10 a.m.
Panel Version: 0.404

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Deafness, autosomal dominant 82, MIM# 619804; {Deafness, autosomal recessive 12, modifier of}, MIM# 601386

Publications

Created: 25 Sep 2020, 10 a.m.
Last Modified: 25 Sep 2020, 10 a.m.
Panel version: 1.23

Sue White (Victorian Clinical Genetics Services)

Green List (high evidence)

onset in first decade
LOF
Sources: Literature
Created: 7 Jan 2020, 9:36 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
progressive sensorineural deafness

Publications

Created: 7 Jan 2020, 9:36 a.m.

Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.225

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Deafness, autosomal dominant 82, MIM# 619804
  • {Deafness, autosomal recessive 12, modifier of}, MIM# 601386
OMIM
108733
Clinvar variants
Variants in ATP2B2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ATP2B2 were changed from Dominant deafness; {Deafness, autosomal recessive 12, modifier of}, MIM# 601386; post lingual progressive sensorineural deafness to Deafness, autosomal dominant 82, MIM# 619804; {Deafness, autosomal recessive 12, modifier of}, MIM# 601386

3 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp2b2 has been classified as Green List (High Evidence).

3 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ATP2B2 were changed from post lingual progressive sensorineural deafness to Dominant deafness; {Deafness, autosomal recessive 12, modifier of}, MIM# 601386; post lingual progressive sensorineural deafness

3 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ATP2B2 were set to 30535804

21 Jul 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ATP2B2 was added gene: ATP2B2 was added to DeafnessIsolated. Sources: Literature,Expert Review Green Mode of inheritance for gene: ATP2B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP2B2 were set to 30535804 Phenotypes for gene: ATP2B2 were set to post lingual progressive sensorineural deafness