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  3. UNC13A
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Congenital Myasthenia

Gene: UNC13A

Red List (low evidence)
UNC13A (unc-13 homolog A)
EnsemblGeneIds (GRCh38): ENSG00000130477
EnsemblGeneIds (GRCh37): ENSG00000130477
OMIM: 609894, Gene2Phenotype
UNC13A is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

One individual described with biallelic variants in this gene and a myasthenic syndrome; another individual reported with de novo variant in this gene and a different neurological phenotype (abnormal movements, developmental delay and autism).
Created: 12 Feb 2020, 3:10 a.m. | Last Modified: 12 Feb 2020, 3:10 a.m.
Panel Version: 0.8

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Congenital myasthenia; dyskinesia; autism; developmental delay

Publications

Created: 12 Feb 2020, 3:10 a.m.
Last Modified: 12 Feb 2020, 3:10 a.m.
Panel version: 0.8

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • microcephaly, cortical hyperexcitability, and fatal myasthenia
  • dyskinesia
  • autism
  • developmental delay
OMIM
609894
Clinvar variants
Variants in UNC13A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: unc13a has been classified as Red List (Low Evidence).

12 Feb 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UNC13A were changed from microcephaly, cortical hyperexcitability, and fatal myasthenia to microcephaly, cortical hyperexcitability, and fatal myasthenia; dyskinesia; autism; developmental delay

12 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: unc13a has been classified as Red List (Low Evidence).

14 Jan 2020, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: UNC13A was added gene: UNC13A was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber Mode of inheritance for gene: UNC13A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNC13A were set to 19558619; 27648472 Phenotypes for gene: UNC13A were set to microcephaly, cortical hyperexcitability, and fatal myasthenia