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  3. PDE6H
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Congenital nystagmus

Gene: PDE6H

Green List (high 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)

Green List (high evidence)

Variants in this gene cause a spectrum of disorders along the retinal cone dystrophy/achromatopsia spectrum. Two families reported only with achromatopsia and bi-allelic variants. Nystagmus is a feature of achromatopsia.
Created: 12 Sep 2020, 1:06 a.m. | Last Modified: 27 Oct 2021, 5:51 a.m.
Panel Version: 0.125

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Achromatopsia 6, MIM# 610024

Publications

Created: 12 Sep 2020, 1:06 a.m.
Last Modified: 27 Oct 2021, 5:51 a.m.
Panel version: Imported from Achromatopsia panel version 0.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Achromatopsia 6 MIM#610024
OMIM
601190
Clinvar variants
Variants in PDE6H
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pde6h has been classified as Green List (High Evidence).

6 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PDE6H was added gene: PDE6H was added to Congenital nystagmus. Sources: Expert Review Green,Expert list Mode of inheritance for gene: PDE6H was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDE6H were set to 22901948 Phenotypes for gene: PDE6H were set to Achromatopsia 6 MIM#610024