Severe early-onset obesity

Gene: INPP5E

Amber List (moderate evidence)

INPP5E (inositol polyphosphate-5-phosphatase E)
EnsemblGeneIds (GRCh38): ENSG00000148384
EnsemblGeneIds (GRCh37): ENSG00000148384
OMIM: 613037, Gene2Phenotype
INPP5E is in 15 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

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

History Filter Activity

3 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: inpp5e has been classified as Amber List (Moderate Evidence).

31 Oct 2021, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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