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Mendeliome

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Chung-Jansen syndrome (CHUJANS) is characterized by global developmental delay apparent from infancy, impaired intellectual development or learning difficulties, behavioural abnormalities, dysmorphic features, and obesity.

More than 20 individuals reported.
Created: 27 Apr 2022, 8:42 a.m. | Last Modified: 27 Apr 2022, 8:43 a.m.
Panel Version: 0.13401

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Chung-Jansen syndrome, MIM# 617991

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Chung-Jansen syndrome, MIM# 617991
OMIM
612870
Clinvar variants
Variants in PHIP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Apr 2022, 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).

27 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PHIP were changed from to Chung-Jansen syndrome, MIM# 617991

27 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PHIP were set to

27 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PHIP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PHIP was added gene: PHIP was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PHIP was set to Unknown