UBR7

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green UBR7 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.540

1 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 1.4852

1 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 1.414

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 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 1.780

    1 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 Congenital hypothyroidism

    Level 3: Thyroid disorders
    Level 2: Endocrine disorders
    Version 0.121

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

    Green UBR7 in Fetal anomalies


    Version 1.576

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