Severe early-onset obesityGene: INPP5E
Comment on phenotypes: This gene is also associated with Joubert syndrome 1, OMIM:213300
Created: 17 Mar 2021, 1:52 p.m. | Last Modified: 17 Mar 2021, 1:52 p.m.
Panel Version: 2.35
INPP5E is associated with MORM syndrome on OMIM and Gene2Phenotype. PMID: 19668215 reported on a Pakistani family who have MORM syndrome with homozygous variant that resulted in a premature termination of the protein in affected family members. The same paper also did function studies to investigate the effects of this variant on cilium function and found that the mutant protein affected the stabilization of the primary cilium. The authors also made a Inpp5e knockout mouse model; however, the deletion was embryonically lethal. PMID: 31173343 reported on another Pakistani family who have MORM syndrome. The affected individuals have the same variant as that described in PMID: 19668215, and the authors have said that the two families are from the same province. Therefore, until more evidence is available this gene has been given an amber gene rating.
Created: 15 Aug 2019, 2:02 p.m. | Last Modified: 15 Aug 2019, 2:02 p.m.
Panel Version: 1.22
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: INPP5E were changed from Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156; Joubert syndrome 1, 213300 to Mental retardation, truncal obesity, retinal dystrophy, and micropenis, OMIM:610156
Source Expert list was added to INPP5E. Source Expert Review Amber was added to INPP5E. Mode of inheritance for gene INPP5E was changed from to BIALLELIC, autosomal or pseudoautosomal Publications for gene INPP5E were changed from to 19668215; 31173343 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
25/Oct/2016: Panel revised according to expert review and additional curation with internal discussion. Ready to be promoted to version 1.
INPP5E was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Radboud University Medical Center, Nijmegen