Retinal disorders

Gene: CIB2

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:06 a.m.

Panel Version: 2.243

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

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

• 23023331
• 23023331
• 26173970
• 26473954
• 27344577
• 26226137
• 26445815

Green List (high evidence)

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.