Genomics England
GMS Panels
Panels
Genes and Entities

SOX4

SRY-box 4
OMIM: 184430
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodevelopmental Disease Associated with Mild Dysmorphism
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder with speech delay and dysmorphic facies, OMIM:618506
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 10.0
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