Albinism or congenital nystagmus

Gene: CNGB3

Amber List (moderate evidence)

CNGB3 (cyclic nucleotide gated channel beta 3)
EnsemblGeneIds (GRCh38): ENSG00000170289
EnsemblGeneIds (GRCh37): ENSG00000170289
OMIM: 605080, Gene2Phenotype
CNGB3 is in 7 panels

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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 Review
Created: 14 Nov 2022, 3:05 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Achromatopsia 3, OMIM:262300



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Amber
  • Expert Review
  • Achromatopsia 3, OMIM:262300
Clinvar variants
Variants in CNGB3
Panels with this gene

History Filter Activity

14 Nov 2022, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: cngb3 has been classified as Amber List (Moderate Evidence).

14 Nov 2022, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

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