OTUD7A

OTU deubiquitinase 7A
OMIM: 612024, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green OTUD7A in Mendeliome


Version 1.3512

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with hypotonia and seizures, MIM# 620790
Tags
  • SV/CNV

Green OTUD7A in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.267

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 4 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with hypotonia and seizures, MIM# 620790
    Tags
    • SV/CNV

    Green OTUD7A in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with hypotonia and seizures, MIM# 620790
    Tags
    • SV/CNV