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Prepair 1000+

Gene: PDE6B

Red List (low 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
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
Panels with this gene

History Filter Activity

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