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  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 5 panels

1 review

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

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

Created: 3 Nov 2021, 3:58 a.m.
Last Modified: 3 Nov 2021, 3:58 a.m.
Panel version: 0.59

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Chung-Jansen syndrome 617991
OMIM
612870
Clinvar variants
Variants in PHIP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: phip has been classified as Green List (High Evidence).

3 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PHIP were changed from dysmorphic facies; behavioral abnormality; Obesity; global developmental delay; intellectual disability to Chung-Jansen syndrome 617991

3 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: phip has been classified as Green List (High Evidence).

31 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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