UNC13A

unc-13 homolog A
OMIM: 609894, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red UNC13A in Autism


Version 0.27

review Not set
Sources
  • Expert Review Red
  • SFARI

Red UNC13A in Congenital myaesthenic syndrome

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.36
Latest signed off version: v2.2 (2 Mar 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH

    Red UNC13A in Neurodegenerative disorders - adult onset


    Version 2.57
    Latest signed off version: v2.56 (16 Dec 2021)

    review Unknown
    Sources
    • Expert Review Red

    Red UNC13A in Amyotrophic lateral sclerosis/motor neuron disease

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.34

    review Unknown
    Sources
    • Literature

    Red UNC13A in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Red
    • Literature