1. Genes and Genomic Entities
  2. SRSF1

SRSF1

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red SRSF1 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • SRSF1-related developmental disorder (monoallelic)
    Green SRSF1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

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