Renal ciliopathies
Gene: INPP5E

INPP5E (inositol polyphosphate-5-phosphatase E)
EnsemblGeneIds (GRCh38): ENSG00000148384
EnsemblGeneIds (GRCh37): ENSG00000148384
OMIM: 613037, Gene2Phenotype
INPP5E is in 17 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to expert review and >3 unrelated cases in OMIM and different variants reported for Joubert syndrome 1.
Created: 27 Aug 2016, 10:23 a.m.

Created: 27 Aug 2016, 10:23 a.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.70

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

Phenotypes
Joubert syndrome

Publications

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

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

Panel version: Imported from Rare multisystem ciliopathy disorders panel version Imported from "Joubert syndrome" panel version 0.23

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list
Other

Phenotypes

Joubert syndrome
Joubert syndrome 1

OMIM

613037

Clinvar variants

Variants in INPP5E

Penetrance

None

Publications

Panels with this gene

History Filter Activity

10 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: INPP5E was added gene: INPP5E was added to Renal ciliopathies. Sources: Other,Expert list,Expert Review Green Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INPP5E were set to 23386033; 26748598 Phenotypes for gene: INPP5E were set to Joubert syndrome; Joubert syndrome 1

Renal ciliopathies Gene: INPP5E