PHIP

pleckstrin homology domain interacting protein
OMIM: 612870, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green PHIP in Severe early-onset obesity

Level 3: Obesity syndromes
Level 2: Endocrine disorders
Version 4.10
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Obesity
  • global developmental delay
  • intellectual disability
  • behavioral abnormality
  • dysmorphic facies
Red PHIP in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Green PHIP in Fetal anomalies


Version 4.1
Latest signed off version: v4.0 (1 May 2024)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Developmental delay, ID, obesity and dysmorphic features
Green PHIP in DDG2P


Version 4.1
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Developmental delay, ID, obesity and dysmorphic features
    Green PHIP in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.1
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • INTELLECTUAL DISABILITY
    • Developmental delay, intellectual disability, obesity, and dysmorphic features, 617991
    Green PHIP in Severe Paediatric Disorders


    Version 1.184

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Developmental delay, intellectual disability, obesity, and dysmorphism, 617991