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  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. PDE6G
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Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: PDE6G

Amber List (moderate evidence)
PDE6G (phosphodiesterase 6G)
EnsemblGeneIds (GRCh38): ENSG00000185527
EnsemblGeneIds (GRCh37): ENSG00000185527
OMIM: 180073, Gene2Phenotype
PDE6G is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

PMID 20655036 Dvir et al 2010 - homozygous splice site PDE6G variant in a large consanguineous family with supportive in vitro splicing assay findings. No additional case reports.
Created: 24 Apr 2022, 2:06 a.m. | Last Modified: 24 Apr 2022, 2:06 a.m.
Panel Version: 0.115

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 57 - MIM#613582

Publications

Created: 24 Apr 2022, 2:06 a.m.
Last Modified: 24 Apr 2022, 2:06 a.m.
Panel version: 0.115

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 57, MIM#613582
OMIM
180073
Clinvar variants
Variants in PDE6G
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Apr 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pde6g has been classified as Amber List (Moderate Evidence).

24 Apr 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PDE6G were changed from Retinitis pigmentosa 57, 613582 to Retinitis pigmentosa 57, MIM#613582

24 Apr 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PDE6G were set to

24 Apr 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pde6g has been classified as Amber List (Moderate Evidence).

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PDE6G was added gene: PDE6G was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PDE6G was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDE6G were set to Retinitis pigmentosa 57, 613582