Differences in sex development
Gene: INPP5E
INPP5E (inositol polyphosphate-5-phosphatase E)
EnsemblGeneIds (GRCh38): ENSG00000148384
EnsemblGeneIds (GRCh37): ENSG00000148384
OMIM: 613037, Gene2Phenotype
INPP5E is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000148384
EnsemblGeneIds (GRCh37): ENSG00000148384
OMIM: 613037, Gene2Phenotype
INPP5E is in 17 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P for Mental Retardation-Truncal Obesity-Retinal Dystrophy-Micropenis and Joubert Syndrome Type 1. At least four variants reported in Joubert syndrome 1 213300 (phenotype not relevant) and one in Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (1 family)Created: 28 Nov 2016, 12:08 p.m.
Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. One mouse variant reported.Created: 21 Sep 2016, 2:01 p.m.
Comment on phenotypes: Variants also reported in Joubert syndrome 1 213300Created: 21 Sep 2016, 1:51 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156
- OMIM
- 613037
- Clinvar variants
- Variants in INPP5E
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Ophthalmological ciliopathies
- Neurological ciliopathies
- Limb disorders
- Severe early-onset obesity
- Intellectual disability
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Ocular coloboma
- Structural eye disease
- Retinal disorders
- Unexplained kidney failure in young people
- Ductal plate malformation
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Differences in sex development
- Fetal anomalies
History Filter Activity
21 Dec 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 21/12/2016
28 Nov 2016, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
28 Nov 2016, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
21 Sep 2016, Gel status: 2
Upload gene information
Sarah Leigh (Genomics England Curator)INPP5E was added to Disorders of sex developmentpanel. Sources: UKGTN
21 Sep 2016, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for INPP5E were set to 19668215
21 Sep 2016, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for INPP5E were set to Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156
20 May 2016, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)INPP5E was added to Disorders of sex developmentpanel. Sources: Radboud University Medical Center, Nijmegen
20 May 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)INPP5E was created by sleigh