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  2. Renal Ciliopathies and Nephronophthisis
  3. PDE6D
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Renal Ciliopathies and Nephronophthisis

Gene: PDE6D

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Second family reported.
Created: 14 May 2020, 7:05 a.m. | Last Modified: 14 May 2020, 7:05 a.m.
Panel Version: 0.60
only 1 case reported with JS associated with optic nerve coloboma and kidney hypoplasia.
Created: 3 Jan 2020, 8:56 a.m. | Last Modified: 3 Jan 2020, 8:56 a.m.
Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 22, OMIM #615665

Publications

Created: 3 Jan 2020, 8:56 a.m.
Last Modified: 3 Jan 2020, 8:56 a.m.
Panel version: Imported from Joubert syndrome and other neurological ciliopathies panel version 0.60

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

only 1 case reported with JS associated with optic nerve coloboma and kidney hypoplasia.
Created: 3 Jan 2020, 4:34 a.m. | Last Modified: 3 Jan 2020, 4:34 a.m.
Panel Version: 0.50

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Joubert syndrome 22, OMIM #615665

Publications

Created: 3 Jan 2020, 4:34 a.m.
Last Modified: 3 Jan 2020, 4:34 a.m.
Panel version: 0.50

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 22, OMIM #615665
OMIM
602676
Clinvar variants
Variants in PDE6D
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pde6d has been classified as Red List (Low Evidence).

14 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Jan 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PDE6D were set to

14 Jan 2020, Gel status: 1

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

3 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: pde6d has been classified as Red List (Low Evidence).

17 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 Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: PDE6D was set to Unknown