Genomics England
GMS Panels
Panels
Genes and Entities

PHIP

pleckstrin homology domain interacting protein
OMIM: 612870
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Developmental delay, ID, obesity and dysmorphic features
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Developmental delay, ID, obesity and dysmorphic features
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
INTELLECTUAL DISABILITY, Developmental delay, intellectual disability, obesity, and dysmorphic features, 617991
Green
in Severe early-onset obesity
R-numbers: R149
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Obesity, global developmental delay, intellectual disability, behavioral abnormality, dysmorphic facies