SRSF1:Ensemblv115

serine and arginine rich splicing factor 1
OMIM: 600812, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green SRSF1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 620489