UBR7

ubiquitin protein ligase E3 component n-recognin 7 (putative)
OMIM: 613816, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green UBR7 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.418

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

Green UBR7 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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 1.33

Component of the following Super Panels:

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

    Green UBR7 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

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

    Green UBR7 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Literature
    Phenotypes
    • Li-Campeau syndrome - MIM#619189