Joubert syndrome

Gene: INPP5E

Red List (low evidence)

INPP5E (inositol polyphosphate-5-phosphatase E)
EnsemblGeneIds (GRCh38): ENSG00000148384
EnsemblGeneIds (GRCh37): ENSG00000148384
OMIM: 613037, Gene2Phenotype
INPP5E is in 19 panels

1 review

Penny Clouston (Oxford)

Green List (high evidence)

In current diagnostic panel; one positive family in our disease cohort. Evidence in the literature.
Created: 15 Mar 2016, 2:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Joubert syndrome


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

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

15 Mar 2016, Gel status: 0


Penny Clouston (Oxford)

INPP5E was created by PennyC

15 Mar 2016, Gel status: 0

Added New Source

Penny Clouston (Oxford)

INPP5E was added to Joubert syndromepanel. Sources: Expert Review