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  3. CIB2
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Additional findings_Paediatric

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.
Sources: Expert list
Created: 28 Sep 2020, 9:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 48, MIM# 609439

Publications

Created: 28 Sep 2020, 9:19 a.m.

Panel version: 0.82

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Deafness, autosomal recessive 48, MIM# 609439
OMIM
605564
Clinvar variants
Variants in CIB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Sep 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).

28 Sep 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).

28 Sep 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CIB2 was added gene: CIB2 was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CIB2 were set to 23023331; 23023331; 26173970; 26473954; 27344577; 26226137; 26445815 Phenotypes for gene: CIB2 were set to Deafness, autosomal recessive 48, MIM# 609439 Review for gene: CIB2 was set to GREEN