Limb disorders
Gene: PDE6DEnsemblGeneIds (GRCh38): ENSG00000156973
EnsemblGeneIds (GRCh37): ENSG00000156973
OMIM: 602676, Gene2Phenotype
PDE6D is in 8 panels
3 reviews
Eleanor Williams (Genomics England Curator)
Comment 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
Ellen McDonagh (Genomics England Curator)
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
Sarah Leigh (Genomics England Curator)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Victorian Clinical Genetics Services
- Phenotypes
-
- ?Joubert syndrome 22 615665
- Polydactyly
- OMIM
- 602676
- Clinvar variants
- Variants in PDE6D
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: pde6d has been classified as Amber List (Moderate Evidence).
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Sarah Leigh: Associated with phenotype in O
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: pde6d has been classified as Red List (Low Evidence).
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Eleanor Williams (Genomics England Curator)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
Added New Source
Ellen McDonagh (Genomics England Curator)PDE6D was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
Created
Ellen McDonagh (Genomics England Curator)PDE6D was created by Ellen McDonagh