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  3. PDE6D
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Structural eye disease

Gene: PDE6D

Amber List (moderate evidence)
PDE6D (phosphodiesterase 6D)
EnsemblGeneIds (GRCh38): ENSG00000156973
EnsemblGeneIds (GRCh37): ENSG00000156973
OMIM: 602676, Gene2Phenotype
PDE6D is in 8 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

I don't know

FC: 1 study of a consanguineous family with microphthalmia/coloboma + zebrafish KD model showing microphthalmia, retinal and kidney defects (Thomas et al., 2014 - PMID:24166846)
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Joubert syndrome 22 (microphthalmia/optic nerve coloboma, intrauterine growth retardation, facial dysmorphism, postaxial polydactyly of feet, syndactyly, polydactyly, renal hypoplasia, extinguished electroretinogram); 615665

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). FC: 1 study of a consanguineous family with microphthalmia/coloboma + zebrafish KD model showing microphthalmia, retinal and kidney defects (Thomas et al., 2014 - PMID:24166846)
Created: 17 Apr 2019, 3:31 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Joubert syndrome 22 (microphthalmia/optic nerve coloboma, intrauterine growth retardation, facial dysmorphism, postaxial polydactyly of feet, syndactyly, polydactyly, renal hypoplasia, extinguished electroretinogram); 615665

Publications

Created: 17 Apr 2019, 3:31 p.m.

Panel version: 0.49

Details

Mode of Inheritance
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
OMIM
602676
Clinvar variants
Variants in PDE6D
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: PDE6D was added gene: PDE6D was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber 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 (microphthalmia/optic nerve coloboma, intrauterine growth retardation, facial dysmorphism, postaxial polydactyly of feet, syndactyly, polydactyly, renal hypoplasia, extinguished electroretinogram), 615665