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Fetal anomalies

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

Belinda Chong (Victorian Clinical Genetics Services)

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).
Sources: Literature
Created: 25 Feb 2022, 6:33 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Congenital myasthenia; dyskinesia; autism; developmental delay

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Congenital myasthenia
  • dyskinesia
  • autism
  • developmental delay
OMIM
609894
Clinvar variants
Variants in UNC13A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2022, 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).

28 Feb 2022, 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).

25 Feb 2022, Gel status: 0

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

Belinda Chong (Victorian Clinical Genetics Services)

gene: UNC13A was added gene: UNC13A was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: UNC13A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: UNC13A were set to 27648472; 28192369 Phenotypes for gene: UNC13A were set to Congenital myasthenia; dyskinesia; autism; developmental delay Review for gene: UNC13A was set to RED