Genomics England
GMS Panels
Panels
Genes and Entities

SRSF1

serine and arginine rich splicing factor 1
OMIM: 600812
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 7.51
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, OMIM:620489