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Limb disorders

Gene: PDE6D

Amber List (moderate evidence)

PDE6D (phosphodiesterase 6D)
EnsemblGeneIds (GRCh38): ENSG00000156973
EnsemblGeneIds (GRCh37): ENSG00000156973
OMIM: 602676, Gene2Phenotype
PDE6D is in 7 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)

I don't know

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)

Red List (low evidence)

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
Phenotypes
  • ?Joubert syndrome 22 615665
  • Polydactyly
OMIM
602676
Clinvar variants
Variants in PDE6D
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: pde6d has been classified as Amber List (Moderate Evidence).

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

7 Nov 2018, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: pde6d has been classified as Red List (Low Evidence).

7 Nov 2018, Gel status: 1

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

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PDE6D was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

PDE6D was created by Ellen McDonagh