Joubert syndrome

Gene: PDE6D

Red List (low evidence)

PDE6D (phosphodiesterase 6D)
EnsemblGeneIds (GRCh38): ENSG00000156973
EnsemblGeneIds (GRCh37): ENSG00000156973
OMIM: 602676, Gene2Phenotype
PDE6D is in 3 panels

1 review

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

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