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  2. Severe early-onset obesity
  3. PHIP
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Severe early-onset obesity

Gene: PHIP

Green List (high evidence)
PHIP (pleckstrin homology domain interacting protein)
EnsemblGeneIds (GRCh38): ENSG00000146247
EnsemblGeneIds (GRCh37): ENSG00000146247
OMIM: 612870, Gene2Phenotype
PHIP is in 4 panels

2 reviews

Ivone Leong (Genomics England Curator)

The 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
Created: 13 Jul 2021, 9:29 a.m.
Last Modified: 13 Jul 2021, 9:29 a.m.
Panel version: 2.48

David Hunt (Wessex Clinical Genetics Service)

Green List (high evidence)

Multiple peer-reviewed publications reporting a high rate of childhood-onset obesity in PHIP-related neurodevelopmental disorder (a.k.a. Chung-Jansen syndrome).
Sources: Literature
Created: 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

Created: 7 Jul 2021, 5:47 p.m.

Panel version: 2.39

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Obesity
  • global developmental delay
  • intellectual disability
  • behavioral abnormality
  • dysmorphic facies
OMIM
612870
Clinvar variants
Variants in PHIP
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag, Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_rating was removed from gene: PHIP. Tag Q3_21_NHS_review was removed from gene: PHIP.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to PHIP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

13 Jul 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: PHIP.

13 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

13 Jul 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_NHS_review tag was added to gene: PHIP.

7 Jul 2021, Gel status: 0

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

David Hunt (Wessex Clinical Genetics Service)

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