Limb disordersGene: PDE6D
Associated with phenotype in OMIM and not in Gen2Phen. At least 1 variants identified in a single family.
Created: 7 Nov 2018, 1:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
?Joubert syndrome 22 615665
Sarah Leigh: Associated with phenotype in O
Gene: pde6d has been classified as Red List (Low Evidence).
Source Expert Review Red was added to PDE6D. Mode of inheritance for gene PDE6D was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ?Joubert syndrome 22 615665 for gene: PDE6D Publications for gene PDE6D were changed from to 24166846
PDE6D was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
PDE6D was created by Ellen McDonagh