Cerebral Palsy
Gene: PHIPEnsemblGeneIds (GRCh38): ENSG00000146247
EnsemblGeneIds (GRCh37): ENSG00000146247
OMIM: 612870, Gene2Phenotype
PHIP is in 5 panels
1 review
Clare van Eyk (University of Adelaide)
Additional individual with a pathogenic de novo frameshift insertion described in WGS study of clinically confirmed CP (PMID: 38553553).Created: 27 Jun 2024, 4:11 a.m. | Last Modified: 27 Jun 2024, 4:11 a.m.
Panel Version: 1.348
2 individuals reported with cerebral palsy and P/LP splice variants in PHIP in a large retrospective analysis of WES data from a clinical laboratory referral cohort and healthcare cohort (PMID:33528536).Created: 27 May 2024, 1:25 p.m. | Last Modified: 27 May 2024, 1:25 p.m.
Panel Version: 1.194
1 individual with monoallelic LOF (frameshift deletion) reported in large-scale exome sequencing study (PMID: 38693247). No detailed clinical information provided.
LOF variants in PHIP are associated with developmental delay, intellectual disability, anxiety, hypotonia, poor balance, obesity, and dysmorphic features.
Sources: LiteratureCreated: 27 May 2024, 12:42 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
- Phenotypes
-
- Chung-Jansen syndrome, MIM#617991
- OMIM
- 612870
- Clinvar variants
- Variants in PHIP
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: phip has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: phip has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: phip has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: PHIP was added gene: PHIP was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: PHIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PHIP were set to PMID: 38693247 Phenotypes for gene: PHIP were set to Chung-Jansen syndrome, MIM#617991 Review for gene: PHIP was set to RED