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Retinal disorders

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 9 panels

4 reviews

Ivone Leong (Genomics England Curator)

This gene has been tagged with "for-review" to ensure that this is flagged for the next review by the GMS specialist group on whether this gene is appropriate to be included for this panel based on the refuted association by ClinGen.
Created: 8 Jan 2021, 1:44 p.m. | Last Modified: 8 Jan 2021, 1:44 p.m.
Panel Version: 2.115

Zornitza Stark (Australian Genomics)

Red List (low 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: 10 Oct 2020, 6:57 a.m. | Last Modified: 10 Oct 2020, 6:57 a.m.
Panel Version: 2.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Usher syndrome, type IJ 614869

Publications

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:04 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Eye Disorders
Tags
for-review
OMIM
605564
Clinvar variants
Variants in CIB2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

8 Jan 2021, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: CIB2.

6 Jan 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: CIB2 were set to

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CIB2. Rating Changed from Green List (high evidence) to Green List (high evidence)

21 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CIB2 was changed to BIALLELIC, autosomal or pseudoautosomal

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

CIB2 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CIB2 was created by ellenmcdonagh