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Joubert syndrome

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

Ellen McDonagh (Genomics England Curator)

I don't know

An additional case has been published: PMID: 30423442. This gene promoted to Amber on the Intellectual disability panel (version 2.1134).
Created: 29 Nov 2019, 2:47 p.m. | Last Modified: 29 Nov 2019, 2:47 p.m.
Panel Version: 0.47

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 29 Nov 2019, 2:47 p.m.
Last Modified: 29 Nov 2019, 2:47 p.m.
Panel version: 0.47

Penny Clouston (Oxford)

Red List (low evidence)

On current diagnostic panel; no positive families to date. evidence in literature.
Created: 16 Mar 2016, 9:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Mar 2016, 9:13 a.m.

Panel version: 0.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Joubert syndrome
OMIM
602676
Clinvar variants
Variants in PDE6D
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Nov 2016, Gel status: 0

Approved Gene

Alice Gardham (Genomics England)

This proposed gene was validated and added to this panel

16 Mar 2016, Gel status: 0

Added New Source

Penny Clouston (Oxford)

PDE6D was added to Joubert syndromepanel. Sources: Expert Review

16 Mar 2016, Gel status: 0

Created

Penny Clouston (Oxford)

PDE6D was created by PennyC