SRPK3

SRSF protein kinase 3
OMIM: 301002, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green SRPK3 in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Myopathy, MONDO:0005336, digenic SRPK3- and TTN-related
Tags
  • digenic

Green SRPK3 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder, X-linked, 114, MIM#301134