1. Genes and Genomic Entities
  2. PDE6D

PDE6D

phosphodiesterase 6D
OMIM: 602676, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Amber PDE6D in Limb disorders


Version 5.4
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • ?Joubert syndrome 22 615665
    • Polydactyly
    Amber PDE6D in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • ?Joubert syndrome 22 - MIM 615665
    Amber PDE6D in Structural eye disease


    Version 3.79
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • ?Joubert syndrome 22 (microphthalmia/optic nerve coloboma, intrauterine growth retardation, facial dysmorphism, postaxial polydactyly of feet, syndactyly, polydactyly, renal hypoplasia, extinguished electroretinogram), 615665
    Red PDE6D in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.172

    		review 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
    Red PDE6D in Ophthalmological ciliopathies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review 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
    Red PDE6D in Neurological ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • ?Joubert syndrome 22
    • Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
    • ?Joubert syndrome 22, 615665
    Red PDE6D in Renal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 3.6
    Latest signed off version: v3.5 (1 May 2024)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Renal superpanel - broad
  • Renal superpanel - narrow

    		•  review 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