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  2. Ophthalmological ciliopathies
  3. PDE6D
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Ophthalmological ciliopathies

Gene: PDE6D

Red List (low evidence)
PDE6D (phosphodiesterase 6D)
EnsemblGeneIds (GRCh38): ENSG00000156973
EnsemblGeneIds (GRCh37): ENSG00000156973
OMIM: 602676, Gene2Phenotype
PDE6D is in 8 panels

3 reviews

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, 2:50 p.m. | Last Modified: 29 Nov 2019, 2:50 p.m.
Panel Version: 0.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome type 22 (JBTS22)

Publications

Created: 29 Nov 2019, 2:50 p.m.
Last Modified: 29 Nov 2019, 2:50 p.m.
Panel version: 0.11

Alice Gardham (Genomics England)

Comment on list classification: Only reported in one family
Created: 19 Jan 2017, 4:35 p.m.
Created: 19 Jan 2017, 4:35 p.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.413

Penny Clouston (Oxford)

Red List (low evidence)

On current diagnostic panel; no positive families to date. evidence in literature.
Created: 16 Mar 2016, 9:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Mar 2016, 9:13 a.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version Imported from "Joubert syndrome" panel version 0.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Other
  • UKGTN
Phenotypes
  • ?Joubert syndrome 22
  • Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
  • ?Joubert syndrome 22, 615665
OMIM
602676
Clinvar variants
Variants in PDE6D
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jul 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: PDE6D was added gene: PDE6D was added to Ophthalmological ciliopathies. Sources: UKGTN,Other,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red Mode of inheritance for gene: PDE6D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDE6D were set to 24166846 Phenotypes for gene: PDE6D were set to ?Joubert syndrome 22; Joubert Syndrome and Senior-Loken Syndrome 24 gene panel; ?Joubert syndrome 22, 615665