Disorders of sex development
Gene: INPP5EComment 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.
Promoted to V1 21/12/2016
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
INPP5E was added to Disorders of sex developmentpanel. Sources: UKGTN
Publications for INPP5E were set to 19668215
Phenotypes for INPP5E were set to Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156
INPP5E was added to Disorders of sex developmentpanel. Sources: Radboud University Medical Center, Nijmegen
INPP5E was created by sleigh