Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: PDE6B

Green List (high evidence)

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

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Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 40
  • Night blindness, congenital stationary, autosomal dominant 2
OMIM
180072
Clinvar variants
Variants in PDE6B
Penetrance
None
Panels with this gene

History Filter Activity

23 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 Autosomal Recessive/X-Linked Retinitis Pigmentosa_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 Retinitis pigmentosa 40; Night blindness, congenital stationary, autosomal dominant 2