Ocular coloboma
Gene: INPP5EEnsemblGeneIds (GRCh38): ENSG00000148384
EnsemblGeneIds (GRCh37): ENSG00000148384
OMIM: 613037, Gene2Phenotype
INPP5E is in 17 panels
2 reviews
Alice Gardham (Genomics England)
Comment on list classification: Expert recommendation to leave red as low frequency associationCreated: 18 Jan 2017, 11:38 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
-
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert Review
- Phenotypes
-
- Joubert syndrome
- OMIM
- 613037
- Clinvar variants
- Variants in INPP5E
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Ophthalmological ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Differences in sex development
- Ocular coloboma
- Retinal disorders
- Structural eye disease
- Severe early-onset obesity
- Neurological ciliopathies
- Intellectual disability
- Cystic kidney disease
- Unexplained kidney failure in young people
- Ductal plate malformation
- Fetal anomalies
- DDG2P
- Limb disorders
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 6th February 2016 by Alice Gardham
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Upload gene information
Alice Gardham (Genomics England)INPP5E was added to Ocular colobomapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)INPP5E was added to Ocular colobomapanel. Sources: Expert Review
Created
Ellen McDonagh (Genomics England Curator)INPP5E was created by ellenmcdonagh