UNC13A

unc-13 homolog A
OMIM: 609894, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red UNC13A in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

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

Green UNC13A in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

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

Green UNC13A in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Genetic Health Queensland
  • Expert Review Green
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 2.0

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

Red UNC13A in Monogenic Diabetes


Level 2: Endocrine disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Monogenic diabetes, MONDO:0015967, UNC13A-related