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Achromatopsia

Gene: PDE6C

Green List (high evidence)
PDE6C (phosphodiesterase 6C)
EnsemblGeneIds (GRCh38): ENSG00000095464
EnsemblGeneIds (GRCh37): ENSG00000095464
OMIM: 600827, Gene2Phenotype
PDE6C is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Cone photoreceptor disorders form a clinical spectrum of diseases that include progressive cone dystrophy (COD) and complete and incomplete achromatopsia (ACHM). Variants in PDE6C cause phenotypes along this spectrum. Well-established gene-disease association, with over 20 families reported.
Created: 12 Sep 2020, 12:58 a.m. | Last Modified: 12 Sep 2020, 12:58 a.m.
Panel Version: 0.23

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cone dystrophy 4, MIM# 613093; Achromatopsia-5

Publications

Created: 12 Sep 2020, 12:58 a.m.
Last Modified: 12 Sep 2020, 12:58 a.m.
Panel version: 0.23

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Achromatopsia-5
  • Cone dystrophy 4, MIM# 613093
OMIM
600827
Clinvar variants
Variants in PDE6C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pde6c has been classified as Green List (High Evidence).

12 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PDE6C were changed from Achromatopsia-5 to Achromatopsia-5; Cone dystrophy 4, MIM# 613093

12 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PDE6C were set to

25 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pde6c has been classified as Green List (High Evidence).

25 May 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PDE6C was added gene: PDE6C was added to Achromatopsia. Sources: Expert list Mode of inheritance for gene: PDE6C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDE6C were set to Achromatopsia-5