Rare multisystem ciliopathy disorders
Gene: INPP5EEnsemblGeneIds (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.
Penny Clouston (Oxford)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Other
- Expert Review Green
- Expert list
- Phenotypes
-
- Joubert syndrome
- Joubert syndrome 1
- OMIM
- 613037
- Clinvar variants
- Variants in INPP5E
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Ophthalmological ciliopathies
- Differences in sex development
- Ocular coloboma
- Intellectual disability
- Cystic kidney disease
- Fetal anomalies
- Structural eye disease
- Renal ciliopathies
- Severe early-onset obesity
- Childhood onset dystonia, chorea or related movement disorder
- Unexplained kidney failure in young people
- Ductal plate malformation
- Limb disorders
- DDG2P
- Retinal disorders
- Neurological ciliopathies
- Rare multisystem ciliopathy disorders
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Added New Source
Ellen McDonagh (Genomics England Curator)INPP5E was added to Rare multisystem ciliopathy disorderspanel. Source: Other
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for INPP5E were set to 23386033; 26748598
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for INPP5E were set to Joubert syndrome
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)INPP5E was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)INPP5E was created by ellenmcdonagh