Severe early-onset obesity
Gene: INPP5E
Single family only with MORM syndrome. Obesity is not a feature of JBTS.Created: 3 Nov 2021, 5:47 a.m. | Last Modified: 3 Nov 2021, 5:47 a.m.
Panel Version: 0.63
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156; MONDO:0012423
PubMed: 19668215 MORM syndrome: single consanguineous family with 14 affected individuals reported, unclear if this is a distinct disorder.
PubMed: 19668216 JBTS: At least 10 families reported, functional data.Created: 2 Nov 2021, 11:41 p.m. | Last Modified: 2 Nov 2021, 11:41 p.m.
Panel Version: 0.59
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 1, MIM# 213300; MONDO:0008944; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156; MONDO:0012423
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: inpp5e has been classified as Amber List (Moderate Evidence).
gene: INPP5E was added gene: INPP5E was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INPP5E were set to 31173343; 19668215 Phenotypes for gene: INPP5E were set to Mental retardation, truncal obesity, retinal dystrophy, and micropenis, OMIM:610156