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  3. CIB2
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Deafness_Isolated

Gene: CIB2

Green List (high evidence)
CIB2 (calcium and integrin binding family member 2)
EnsemblGeneIds (GRCh38): ENSG00000136425
EnsemblGeneIds (GRCh37): ENSG00000136425
OMIM: 605564, Gene2Phenotype
CIB2 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DEFINITIVE association with isolated deafness, REFUTED association with Usher syndrome by ClinGen. Multiple families, mouse and zebrafish animal models, all families but one with isolated deafness.
Created: 28 Sep 2020, 9:04 a.m. | Last Modified: 28 Sep 2020, 9:04 a.m.
Panel Version: 0.416

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 48, MIM# 609439

Publications

Created: 28 Sep 2020, 9:04 a.m.
Last Modified: 28 Sep 2020, 9:04 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.416

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 48, MIM# 609439
OMIM
605564
Clinvar variants
Variants in CIB2
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: cib2 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: CIB2 were changed from Deafness, autosomal recessive 48 to Deafness, autosomal recessive 48, MIM# 609439

3 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CIB2 were set to

21 Jul 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CIB2 was added gene: CIB2 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CIB2 were set to Deafness, autosomal recessive 48