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Intellectual disability

Gene: UNC13A

Red List (low evidence)

UNC13A (unc-13 homolog A)
EnsemblGeneIds (GRCh38): ENSG00000130477
EnsemblGeneIds (GRCh37): ENSG00000130477
OMIM: 609894, Gene2Phenotype
UNC13A is in 5 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: New gene added by external expert review. This maybe a disease-modifying gene, but there is not enough evidence to date to rate this gene other than Red for now
Created: 16 Jul 2018, 2:52 p.m.

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Single family reported, consider inclusion as Red.
Created: 22 Jun 2018, 3:01 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
OMIM
609894
Clinvar variants
Variants in UNC13A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to UNC13A.

16 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

UNC13A was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

UNC13A was created by Zornitza Stark