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Intellectual disability syndromic and non-syndromic

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)

Recent large case series describing 20 individuals; variable expressivity, some inherited from mildly affected parents, most de novo.
Sources: Expert list
Created: 8 Dec 2019, 8:45 p.m.

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
  • Expert list
Phenotypes
  • Chung-Jansen syndrome, MIM#617991
OMIM
612870
Clinvar variants
Variants in PHIP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Dec 2019, 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).

8 Dec 2019, 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).

8 Dec 2019, Gel status: 1

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 Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list Mode of inheritance for gene: PHIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PHIP were set to 29209020; 27900362; 23033978 Phenotypes for gene: PHIP were set to Chung-Jansen syndrome, MIM#617991 Review for gene: PHIP was set to GREEN