PHIP

pleckstrin homology domain interacting protein
OMIM: 612870, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green PHIP in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.356

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Chung-Jansen syndrome, MIM#617991

Green PHIP in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Chung-Jansen syndrome, MIM# 617991

Green PHIP in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Chung-Jansen syndrome, MIM#617991

Red PHIP in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Chung-Jansen syndrome, MIM#617991

Green PHIP in Severe early-onset obesity


Level 2: Endocrine disorders
Version 1.10

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Chung-Jansen syndrome 617991