Rare multisystem ciliopathy disorders
Gene: PDE6DEnsemblGeneIds (GRCh38): ENSG00000156973
EnsemblGeneIds (GRCh37): ENSG00000156973
OMIM: 602676, Gene2Phenotype
PDE6D is in 8 panels
4 reviews
Zornitza Stark (Australian Genomics)
Agree, second family published, suggest upgrade to Amber.Created: 3 Jan 2020, 9:16 a.m. | Last Modified: 3 Jan 2020, 9:16 a.m.
Panel Version: 1.123
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome type 22 (JBTS22)
Publications
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, 2:49 p.m. | Last Modified: 29 Nov 2019, 2:49 p.m.
Panel Version: 1.121
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 familyCreated: 19 Jan 2017, 4:35 p.m.
Penny Clouston (Oxford)
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
- Other
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- ?Joubert syndrome 22, 615665
- Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
- ?Joubert syndrome 22
- OMIM
- 602676
- Clinvar variants
- Variants in PDE6D
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Set publications
Alice Gardham (Genomics England)Publications for PDE6D were set to 24166846
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)PDE6D was added to Rare multisystem ciliopathy disorderspanel. Source: Other
Upload gene information
Ellen McDonagh (Genomics England Curator)PDE6D was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene PDE6D were set to ?Joubert syndrome 22, 615665;Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
Upload gene information
Ellen McDonagh (Genomics England Curator)PDE6D was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene PDE6D were set to ?Joubert syndrome 22, 615665
Added New Source
Ellen McDonagh (Genomics England Curator)PDE6D was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)PDE6D was created by ellenmcdonagh