Limb disorders
Gene: PDE6DComment on list classification: Promoting to amber as now two cases reported, both with polydactyly.Created: 10 Dec 2019, 11:07 a.m. | Last Modified: 10 Dec 2019, 11:07 a.m.
Panel Version: 1.142
An additional case has been published: PMID: 30423442. This gene promoted to Amber on the Intellectual disability panel (version 2.1134).Created: 29 Nov 2019, 2:48 p.m. | Last Modified: 29 Nov 2019, 2:48 p.m.
Panel Version: 1.141
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome type 22 (JBTS22)
Publications
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
Phenotypes
?Joubert syndrome 22 615665
Publications
Gene: pde6d has been classified as Amber List (Moderate Evidence).
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