UBR7:Ensemblv115

ubiquitin protein ligase E3 component n-recognin 7
OMIM: 613816, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green UBR7 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Li-Campeau syndrome, MIM# 619189
  • Intellectual disability
  • epilepsy
  • hypothyroidism
  • congenital anomalies
  • dysmorphic features

Green UBR7 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Li-Campeau syndrome, MIM# 619189
  • Intellectual disability
  • epilepsy
  • hypothyroidism
  • congenital anomalies
  • dysmorphic features