Rare multisystem ciliopathy disorders
Gene: PDE6D
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
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
Comment on list classification: Only reported in one familyCreated: 19 Jan 2017, 4:35 p.m.
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
Promoted to version 1 by Alice Gardham on 26th January 2017
This gene has been classified as Red List (Low Evidence).
Publications for PDE6D were set to 24166846
This gene has been classified as Red List (Low Evidence).
PDE6D was added to Rare multisystem ciliopathy disorderspanel. Source: Other
PDE6D was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
Phenotypes for gene PDE6D were set to ?Joubert syndrome 22, 615665;Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
PDE6D was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Phenotypes for gene PDE6D were set to ?Joubert syndrome 22, 615665
PDE6D was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
PDE6D was created by ellenmcdonagh