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  2. Congenital Stationary Night Blindness
  3. PDE6B
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Congenital Stationary Night Blindness

Gene: PDE6B

Green List (high evidence)
PDE6B (phosphodiesterase 6B)
EnsemblGeneIds (GRCh38): ENSG00000133256
EnsemblGeneIds (GRCh37): ENSG00000133256
OMIM: 180072, Gene2Phenotype
PDE6B is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two families with CSNB and supportive functional data. One of the families is very large, the Rambusch pedigree.
Created: 26 Oct 2021, 5:21 a.m. | Last Modified: 26 Oct 2021, 5:21 a.m.
Panel Version: 0.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Night blindness, congenital stationary, autosomal dominant 2 MIM# 163500

Publications

Created: 26 Oct 2021, 5:21 a.m.
Last Modified: 26 Oct 2021, 5:21 a.m.
Panel version: 0.15

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Night blindness, congenital stationary, autosomal dominant 2, 163500
  • Retinitis pigmentosa
OMIM
180072
Clinvar variants
Variants in PDE6B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pde6b has been classified as Green List (High Evidence).

26 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PDE6B were set to

26 Oct 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PDE6B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PDE6B was added gene: PDE6B was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PDE6B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PDE6B were set to Night blindness, congenital stationary, autosomal dominant 2, 163500; Retinitis pigmentosa