1. Genes and Genomic Entities
  2. PHIP

PHIP

pleckstrin homology domain interacting protein
OMIM: 612870, Gene2Phenotype

4 panels

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


Level 2: Endocrinology
Version 5.21
Latest signed off version: v5.0 (30 Apr 2025)

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


Level 2: Fetal (including NIPD)
Version 6.181
Latest signed off version: v6.0 (30 Apr 2025)

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 6.447
Latest signed off version: v6.0 (30 Apr 2025)

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 2: Developmental disorders
    Version 9.345
    Latest signed off version: v9.0 (30 Apr 2025)

    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