UNC13A

unc-13 homolog A
OMIM: 609894, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red UNC13A in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.198

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital myasthenia
  • dyskinesia
  • autism
  • developmental delay

Green UNC13A in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital myasthenia
  • dyskinesia
  • autism
  • developmental delay
  • neurodevelopmental disorder MONDO#0700092, UNC13A-related

Green UNC13A in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • neurodevelopmental disorder MONDO#0700092, UNC13A-related

    Green UNC13A in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Congenital myasthenia
    • dyskinesia
    • autism
    • developmental delay
    • neurodevelopmental disorder MONDO#0700092, UNC13A-related

    Red UNC13A in Congenital Myasthenia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.10

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Royal Melbourne Hospital
    Phenotypes
    • microcephaly, cortical hyperexcitability, and fatal myasthenia
    • dyskinesia
    • autism
    • developmental delay

    Red UNC13A in Fetal anomalies


    Version 1.255

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Congenital myasthenia
    • dyskinesia
    • autism
    • developmental delay