Genomics England
GMS Panels
Panels
Genes and Entities

SOX4

SRY-box 4
OMIM: 184430
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodevelopmental Disease Associated with Mild Dysmorphism
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Coffin-Siris syndrome 10, OMIM:618506, Syndromic intellectual disability, Global developmental delay, Intellectual disability, Growth delay, Clinodactyly of the 5th finger, facial dysmorphism