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Deafness_IsolatedAndComplex

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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

30 Dec 2019, 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).

30 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CABP2 were changed from to Deafness, autosomal recessive 93, MIM# 614899

30 Dec 2019, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CABP2 were set to

30 Dec 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CABP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CABP2 was added gene: CABP2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: CABP2 was set to Unknown