UBR5

ubiquitin protein ligase E3 component n-recognin 5
OMIM: 608413, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green UBR5 in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.224

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
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 1.24

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

Green UBR5 in Mendeliome


Version 1.3512

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

Green UBR5 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.267

Component of the following Super Panels:

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

    Green UBR5 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

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