Renal ciliopathies

Gene: PDE6D

Red List (low evidence)

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

4 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

The case reported in 2019 did not have a renal phenotype: the link to renal disease for this ciliopathy gene is not well established.
Created: 3 Jan 2020, 4:33 a.m. | Last Modified: 3 Jan 2020, 4:33 a.m.
Panel Version: 1.0

Phenotypes
Joubert syndrome 22

Publications

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, 2:51 p.m. | Last Modified: 29 Nov 2019, 2:51 p.m.
Panel Version: 1.0

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome type 22 (JBTS22)

Publications

Alice Gardham (Genomics England)

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

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

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

10 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: PDE6D was added gene: PDE6D was added to Renal 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