Genomics England
GMS Panels
Panels
Genes and Entities

SUPT16H

SPT16 homolog, facilitates chromatin remodeling subunit
OMIM: 605012
PanelMode of inheritanceDetails
1 panel
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, imprinted status unknown
Phenotypes
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, OMIM:619480, Global developmental delay, Intellectual disability, Abnormality of the corpus callosum