Severe early-onset obesity
Gene: PHIPThe rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 3:52 p.m. | Last Modified: 3 Mar 2022, 3:52 p.m.
Panel Version: 2.48
Comment on list classification: New gene added by David Hunt (Wessex Clinical Genetics Service). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 13 Jul 2021, 9:29 a.m. | Last Modified: 13 Jul 2021, 9:29 a.m.
Panel Version: 2.40
Multiple peer-reviewed publications reporting a high rate of childhood-onset obesity in PHIP-related neurodevelopmental disorder (a.k.a. Chung-Jansen syndrome).
Sources: LiteratureCreated: 7 Jul 2021, 5:47 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Obesity; global developmental delay; intellectual disability; behavioral abnormality; dysmorphic facies
Publications
Tag Q3_21_rating was removed from gene: PHIP. Tag Q3_21_NHS_review was removed from gene: PHIP.
Source Expert Review Green was added to PHIP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q3_21_rating tag was added to gene: PHIP.
Gene: phip has been classified as Amber List (Moderate Evidence).
Tag Q3_21_NHS_review tag was added to gene: PHIP.
gene: PHIP was added gene: PHIP was added to Severe early-onset obesity. Sources: Literature Mode of inheritance for gene: PHIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PHIP were set to 27900362; 29209020; 31167805; 32492392; 33867250 Phenotypes for gene: PHIP were set to Obesity; global developmental delay; intellectual disability; behavioral abnormality; dysmorphic facies Penetrance for gene: PHIP were set to unknown Review for gene: PHIP was set to GREEN