1. Genes and Genomic Entities
  2. OTUD7A

OTUD7A

OTU deubiquitinase 7A
OMIM: 612024, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red OTUD7A in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Red OTUD7A in DDG2P


Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • 15q13.3 deletions phenocopy
    Green OTUD7A in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.196
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • developmental and epileptic encephalopathy, MONDO:0100062
    Tags
    • gene-checked
    Green OTUD7A in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • developmental and epileptic encephalopathy, MONDO:0100062
    • intellectual disability, MONDO:0001071
    Tags
    • gene-checked