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  2. Deafness_Isolated
  3. WBP2
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Deafness_Isolated

Gene: WBP2

Amber List (moderate evidence)
WBP2 (WW domain binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000132471
EnsemblGeneIds (GRCh37): ENSG00000132471
OMIM: 606962, Gene2Phenotype
WBP2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated families identified in a large cohort; supportive animal model data.
Sources: Expert list
Created: 1 Jan 2020, 10:50 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 107, MIM3 617639

Publications

Created: 1 Jan 2020, 10:50 p.m.

Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.168

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Expert list
Phenotypes
  • Deafness, autosomal recessive 107, MIM# 617639
OMIM
606962
Clinvar variants
Variants in WBP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wbp2 has been classified as Amber List (Moderate Evidence).

21 Jul 2020, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WBP2 was added gene: WBP2 was added to DeafnessIsolated. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: WBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WBP2 were set to 26881968 Phenotypes for gene: WBP2 were set to Deafness, autosomal recessive 107, MIM# 617639