U2AF2:Ensemblv115

U2 small nuclear RNA auxiliary factor 2
OMIM: 191318, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green U2AF2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

4 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert list
  • Literature
  • Expert Review Green
Phenotypes
  • Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535

Red U2AF2 in Leukodystrophy - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535