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 11 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.
15 Mar 2016, 2:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome

Publications

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

Created

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