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Gene: PDE6B

Red List (low evidence)

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

1 review

Melanie Marty (Victorian Clinical Genetics Services)

Red List (low evidence)

Biallelic variants associated with RP, mono allelic variants associated with congenital stationary night blindness.

Age of onset ranges from first to second decade. Severity can vary, with most individuals experiencing mild to no visual acuity loss. While the disease is progressive, the rate of progression can vary (PMID: 18854872).
Created: 11 Apr 2025, 4:54 a.m. | Last Modified: 11 Apr 2025, 4:54 a.m.
Panel Version: 1.1868

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa-40, MIM#613801

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Retinitis pigmentosa-40, MIM #613801
OMIM
180072
Clinvar variants
Variants in PDE6B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Apr 2025, Gel status: 1

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: pde6b has been classified as Red List (Low Evidence).

24 Apr 2025, Gel status: 1

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: PDE6B were set to

1 Jun 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PDE6B was added gene: PDE6B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red Mode of inheritance for gene: PDE6B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDE6B were set to Retinitis pigmentosa-40, MIM #613801