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Cone-rod Dystrophy

Gene: PDE6H

Red List (low evidence)
PDE6H (phosphodiesterase 6H)
EnsemblGeneIds (GRCh38): ENSG00000139053
EnsemblGeneIds (GRCh37): ENSG00000139053
OMIM: 601190, Gene2Phenotype
PDE6H is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

The association between variants in PDE6H and retinal cone dystrophy is disputed. 5'UTR detected in a pair of siblings, but inherited from asymptomatic father.

The association with achromatopsia is well established.
Created: 13 Oct 2020, 7:17 a.m. | Last Modified: 13 Oct 2020, 7:17 a.m.
Panel Version: 0.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinal cone dystrophy 3, MIM# 610024

Publications

Created: 13 Oct 2020, 7:17 a.m.
Last Modified: 13 Oct 2020, 7:17 a.m.
Panel version: 0.15

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Retinal Cone Dystrophy 3, 610024
OMIM
601190
Clinvar variants
Variants in PDE6H
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pde6h has been classified as Red List (Low Evidence).

13 Oct 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PDE6H were changed from Retinal Cone Dystrophy 3, 610024; Achromatopsia 6, 610024 to Retinal Cone Dystrophy 3, 610024

13 Oct 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PDE6H were set to 30679166

13 Oct 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PDE6H was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

13 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pde6h has been classified as Red List (Low Evidence).

19 May 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PDE6H was added gene: PDE6H was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PDE6H was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDE6H were set to 30679166 Phenotypes for gene: PDE6H were set to Retinal Cone Dystrophy 3, 610024; Achromatopsia 6, 610024