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Albinism or congenital nystagmus

Gene: CNGB3

Green List (high evidence)
CNGB3 (cyclic nucleotide gated channel beta 3)
EnsemblGeneIds (GRCh38): ENSG00000170289
EnsemblGeneIds (GRCh37): ENSG00000170289
OMIM: 605080, Gene2Phenotype
CNGB3 is in 4 panels

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 5 Dec 2024, 4:29 p.m. | Last Modified: 5 Dec 2024, 4:29 p.m.
Panel Version: 3.11
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

Phenotypes
Achromatopsia 3, OMIM:262300

Publications

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

Panel version: 3.11

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review
Phenotypes
  • Achromatopsia 3, OMIM:262300
OMIM
605080
Clinvar variants
Variants in CNGB3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Dec 2024, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_22_promote_green was removed from gene: CNGB3.

5 Dec 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to CNGB3. Source Expert Review Green was added to CNGB3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

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