PHIP
Homo sapiens
Gene Name: pleckstrin homology domain interacting protein
Aliases: BRWD2, DCAF14, WDR11, ndrp
Chromosome No: 6
Chromosome Band: 6q14.1
Genetic Category: Rare single gene variant--Syndromic
Aliases: BRWD2, DCAF14, WDR11, ndrp
Chromosome No: 6
Chromosome Band: 6q14.1
Genetic Category: Rare single gene variant--Syndromic
Summary Statistics:
ASD Reports: 25
Recent Reports: 4
Annotated variants: 132
Associated CNVs: 10
Evidence score: 4
ASD Reports: 25
Recent Reports: 4
Annotated variants: 132
Associated CNVs: 10
Evidence score: 4
| Associated Disorders: |
|
Relevance to Autism
A de novo potentially damaging missense variant in the PHIP gene was identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014); a de novo frameshift variant in this gene was identified in an ASD proband from the Autism Clinical and Genetic Resources in China (ACGC) cohort (Wang et al., 2016).
Molecular Function
Probable regulator of the insulin and insulin-like growth factor signaling pathways. Stimulates cell proliferation through regulation of cyclin transcription and has an anti-apoptotic activity through AKT1 phosphorylation and activation. Plays a role in the regulation of cell morphology and cytoskeletal organization.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: experience of two clinical units and 216 patients.
ID
Support
Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population
DD
Support
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.
ID, hypotonia
Support
The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing
ASD
Support
PHIP variants associated with Chung-Jansen syndrome disrupt replication fork stability and genome integrity
Chung-Jansen syndrome, DD
ASD
Support
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
DD
Support
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
ASD, DD
Support
Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China
ASD
Support
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
DD
PDD, epilepsy/seizures
Support
Clinical and genetic characterization of individuals with predicted deleterious PHIP variants.
Developmental delay, intellectual disability, obes
ASD or autistic features, ADHD
Support
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability
ID, epilepsy/seizures
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders
DD, ID
Recent Recommendation
Chung-Jansen syndrome, DD, ID
ASD, ADHD, epilepsy/seizures
Recent Recommendation
Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription
Severe childhood-onset obesity
Autistic features, behavioral abnormalities
Recent Recommendation
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.
ID
ASD or autistic features
Recent Recommendation
De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features.
DD, ID
Anxiety, hypotonia, obesity
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN856R026
frameshift_variant
c.1050del
p.Phe350LeufsTer32
Unknown
Not maternal
GEN856R034
frameshift_variant
c.540_541insA
p.Gly181ArgfsTer12
Familial
Paternal
Unknown
GEN856R039
frameshift_variant
c.598_599delinsT
p.Thr200LeufsTer8
Unknown
Not paternal
GEN856R113
frameshift_variant
c.3631_3634del
p.Gln1211AspfsTer13
De novo
Simplex
GEN856R120
frameshift_variant
c.2306_2309del
p.Pro769LeufsTer43
De novo
Simplex
GEN856R126
frameshift_variant
c.2521_2522insCACACACA
p.Ser841ThrfsTer65
Familial
Maternal
Common
No Common Variants Available
