Genomics England
GMS Panels
Panels
Genes and Entities

SRPK3

SRSF protein kinase 3
OMIM: 301002
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 8.134
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071