Ophthalmological ciliopathies
Gene: PDE6D
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
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
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