Fetal anomalies
Gene: PDE6G

PDE6G (phosphodiesterase 6G)
EnsemblGeneIds (GRCh38): ENSG00000185527
EnsemblGeneIds (GRCh37): ENSG00000185527
OMIM: 180073, Gene2Phenotype
PDE6G is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PDE6G gene rating from Green to Red.
Created: 4 Apr 2019, 10:28 a.m.

DDG2P rating in original PAGE list: Confirmed for RETINITIS PIGMENTOSA 57
Created: 11 Dec 2018, 9:05 a.m.

Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.153

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
PAGE DD-Gene2Phenotype

Phenotypes

RETINITIS PIGMENTOSA 57

OMIM

180073

Clinvar variants

Variants in PDE6G

Penetrance

None

Panels with this gene

History Filter Activity

4 Apr 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to PDE6G. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: PDE6G was added gene: PDE6G was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PDE6G was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDE6G were set to RETINITIS PIGMENTOSA 57

Fetal anomalies Gene: PDE6G