Severe early-onset obesity
Gene: PHIP
PMID 29209020: In 20 individuals; variable expressivity, some inherited from mildly affected parents, most de novo. In addition to the DD/ID, the other most striking and overlapping feature in these individuals was overweight, which was observed in 17 individuals (74%), of whom 9 were obese.Created: 3 Nov 2021, 3:58 a.m. | Last Modified: 3 Nov 2021, 3:58 a.m.
Panel Version: 0.59
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Chung-Jansen syndrome 617991
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: phip has been classified as Green List (High Evidence).
Phenotypes for gene: PHIP were changed from dysmorphic facies; behavioral abnormality; Obesity; global developmental delay; intellectual disability to Chung-Jansen syndrome 617991
Gene: phip has been classified as Green List (High Evidence).
gene: PHIP was added gene: PHIP was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber Mode of inheritance for gene: PHIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PHIP were set to 27900362; 31167805; 32492392; 29209020; 33867250 Phenotypes for gene: PHIP were set to dysmorphic facies; behavioral abnormality; Obesity; global developmental delay; intellectual disability