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  3. CABP2
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Deafness_Isolated

Gene: CABP2

Green List (high evidence)
CABP2 (calcium binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000167791
EnsemblGeneIds (GRCh37): ENSG00000167791
OMIM: 607314, Gene2Phenotype
CABP2 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three families reported originally but note ?founder variant; new report 2019 with novel variant plus animal model.
Created: 30 Dec 2019, 11:43 p.m. | Last Modified: 30 Dec 2019, 11:43 p.m.
Panel Version: 0.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 93, MIM# 614899

Publications

Created: 30 Dec 2019, 11:43 p.m.
Last Modified: 30 Dec 2019, 11:43 p.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.20

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal recessive 93, MIM# 614899
OMIM
607314
Clinvar variants
Variants in CABP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cabp2 has been classified as Green List (High Evidence).

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: CABP2 was added gene: CABP2 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CABP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CABP2 were set to 22981119; 28183797; 31661684 Phenotypes for gene: CABP2 were set to Deafness, autosomal recessive 93, MIM# 614899