Albinism or congenital nystagmus
Gene: CNGB3
Comment on list classification: This gene should be promoted to Green at the next GMS panel update (sufficient number of cases, already green on other panels, phenotypic relevance confirmed by clinician).Created: 14 Nov 2022, 3:06 p.m. | Last Modified: 14 Nov 2022, 3:06 p.m.
Panel Version: 1.27
Added to this panel following suggestion from Dr Helen Brittain (Genomics England Clinical Team) who highlighted a patient who would have benefitted from inclusion of CNGB3 on R39 Albinism or congenital nystagmus. Biallelic variants cause achromatopsia, featuring total colour blindness, photophobia, reduced visual acuity and nystagmus.
Sources: Expert ReviewCreated: 14 Nov 2022, 3:05 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Achromatopsia 3, OMIM:262300
Publications
Gene: cngb3 has been classified as Amber List (Moderate Evidence).
gene: CNGB3 was added gene: CNGB3 was added to Albinism or congenital nystagmus. Sources: Expert Review Q4_22_promote_green tags were added to gene: CNGB3. Mode of inheritance for gene: CNGB3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNGB3 were set to 10888875; 10958649; 35332618 Phenotypes for gene: CNGB3 were set to Achromatopsia 3, OMIM:262300 Review for gene: CNGB3 was set to GREEN