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Intellectual disability syndromic and non-syndromic

Gene: PDE6D

Green List (high evidence)

PDE6D (phosphodiesterase 6D)
EnsemblGeneIds (GRCh38): ENSG00000156973
EnsemblGeneIds (GRCh37): ENSG00000156973
OMIM: 602676, Gene2Phenotype
PDE6D is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two families and good functional data.
Created: 8 Dec 2019, 9:09 a.m. | Last Modified: 24 Aug 2021, 2:01 a.m.
Panel Version: 0.4087

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 22, MIM#615665

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Joubert syndrome 22, MIM#615665
OMIM
602676
Clinvar variants
Variants in PDE6D
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pde6d has been classified as Green List (High Evidence).

3 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pde6d has been classified as Amber List (Moderate Evidence).

8 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pde6d has been classified as Green List (High Evidence).

8 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PDE6D were changed from to Joubert syndrome 22, MIM#615665

8 Dec 2019, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PDE6D were set to

8 Dec 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PDE6D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PDE6D was added gene: PDE6D was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PDE6D was set to Unknown