Monogenic Diabetes

Gene: UNC13A

Red List (low evidence)

UNC13A (unc-13 homolog A)
EnsemblGeneIds (GRCh38): ENSG00000130477
EnsemblGeneIds (GRCh37): ENSG00000130477
OMIM: 609894, Gene2Phenotype
UNC13A is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Two probands in the GeL 100K dataset with LoF variants and diabetes. No segregation data available. Some supportive mouse data. LoF variants also observed in controls, leading authors to speculate regarding penetrance.
Sources: Literature
Created: 3 Mar 2025, 5:32 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Monogenic diabetes, MONDO:0015967, UNC13A-related

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Monogenic diabetes, MONDO:0015967, UNC13A-related
OMIM
609894
Clinvar variants
Variants in UNC13A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2025, 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).

3 Mar 2025, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UNC13A was added gene: UNC13A was added to Monogenic Diabetes. Sources: Literature Mode of inheritance for gene: UNC13A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UNC13A were set to 40011789 Phenotypes for gene: UNC13A were set to Monogenic diabetes, MONDO:0015967, UNC13A-related Review for gene: UNC13A was set to RED