SRSF1

serine and arginine rich splicing factor 1
OMIM: 600812, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green SRSF1 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 620489

Green SRSF1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

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