Severe early-onset obesity
Gene: INPP5EEnsemblGeneIds (GRCh38): ENSG00000148384
EnsemblGeneIds (GRCh37): ENSG00000148384
OMIM: 613037, Gene2Phenotype
INPP5E is in 15 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Genomics England PanelApp
- Phenotypes
-
- Mental retardation, truncal obesity, retinal dystrophy, and micropenis, OMIM:610156
- OMIM
- 613037
- Clinvar variants
- Variants in INPP5E
- Penetrance
- None
- Publications
- Panels with this gene
-
- Joubert syndrome and other neurological ciliopathies
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Prepair 1000+
- Renal Ciliopathies and Nephronophthisis
- Intellectual disability syndromic and non-syndromic
- Regression
- Fetal anomalies
- Mendeliome
- Syndromic Retinopathy
- Prepair 500+
- Callosome
- Ataxia - paediatric
- Severe early-onset obesity
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: inpp5e has been classified as Amber List (Moderate Evidence).
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