UBR5:Ensemblv115

ubiquitin protein ligase E3 component n-recognin 5
OMIM: 608413, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green UBR5 in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with speech delay and behavioral abnormalities, MIM# 621372

Green UBR5 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with speech delay and behavioral abnormalities, MIM# 621372

Green UBR5 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with speech delay and behavioral abnormalities, MIM# 621372