Renal ciliopathies
Gene: PDE6D
Provisionally associated with ?Joubert syndrome 22 #615665 (AR) in OMIM.
Summary of cases - 1 family reported in which 1 of 3 affected siblings had a renal phenotype. Zebra fish model also shows a renal phenotype.
PMID: 24166846 - Thomas et al 2014 - report a consanguineous family with three affected and 2 healthy sibs. The proband presents with intrauterine growth retardation, facial dysmorphism, postaxial polydactyly of feet and syndactyly II–III, renal hypoplasia, microphthlamia and an extinguished electroretinogram. A renal phenotype was not reported in the two other affected siblings. A c.140-1G>A mutation is present in all 3 affected sibs at the homozygous state and in parents at the heterozygous state, which results in a truncated protein. pde6d depletion in zebrafish leads to renal and retinal developmental anomalies and wild-type but not mutant PDE6D is able to rescue this phenotype.
PMID: 30423442 Mégarbané et al 2019 - report a newborn boy from a consanguineous Lebanese family who presented features of JS and carried a homozygous truncating mutation in the PDE6D gene. NO renal abnormalities were found at the time of diagnosis.Created: 26 Jun 2020, 2:06 p.m. | Last Modified: 26 Jun 2020, 2:06 p.m.
Panel Version: 1.19
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Joubert syndrome 22, 615665
Publications
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
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
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 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