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  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. CNGB1
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Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: CNGB1

Green List (high evidence)
CNGB1 (cyclic nucleotide gated channel beta 1)
EnsemblGeneIds (GRCh38): ENSG00000070729
EnsemblGeneIds (GRCh37): ENSG00000070729
OMIM: 600724, Gene2Phenotype
CNGB1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established gene-disease association. PMID:33847019 lists 84 reported variants, including phenotypic data from 34 cases
Created: 29 Apr 2022, 8:02 a.m. | Last Modified: 29 Apr 2022, 8:02 a.m.
Panel Version: 0.122

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 45 MIM#613767

Publications

Created: 29 Apr 2022, 8:02 a.m.
Last Modified: 29 Apr 2022, 8:02 a.m.
Panel version: 0.122

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 45, MIM#613767
OMIM
600724
Clinvar variants
Variants in CNGB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cngb1 has been classified as Green List (High Evidence).

29 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CNGB1 were changed from Retinitis pigmentosa 45, 613767 to Retinitis pigmentosa 45, MIM#613767

29 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CNGB1 were set to

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CNGB1 was added gene: CNGB1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CNGB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CNGB1 were set to Retinitis pigmentosa 45, 613767