Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Genetic Epilepsy

Gene: UNC13B

Red List (low evidence)

UNC13B (unc-13 homolog B)
EnsemblGeneIds (GRCh38): ENSG00000198722
EnsemblGeneIds (GRCh37): ENSG00000198722
OMIM: 605836, Gene2Phenotype
UNC13B is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Comment when marking as ready: Agree data is conflicting esp regarding MOI, and evidence for pathogenicity of several of the variants is limited.
Created: 5 Oct 2021, 10:43 a.m. | Last Modified: 5 Oct 2021, 10:43 a.m.
Panel Version: 0.1261

Krithika Murali (Victorian Clinical Genetics Services)

Red List (low evidence)

No OMIM human disease association. Gene encodes a presynaptic protein Munc13-2 highly expressed in the brain (predominantly cerebral cortex).

Variant interpretation data in human epilepsy cohort somewhat conflicting and restricted to a single study. Wang et al, Brain, 2021 - trio-based whole-exome sequencing identified UNC13B in 12 individuals affected by partial epilepsy and/or febrile seizures from 8 unrelated families. Identified:
x1 de novo nonsense variant, absent in gnomad, damaging in silicos
x1 de novo splice site, absent in gnomad, damaging in silicos
x1 splice site variant present in unaffected mother (low frequency in gnomad)
x2 compound het in one individual - more severe phenotype postulated (x1 variant present in contro cohortl, the other variant present in low frequency in gnomad)
x1 missense variant - in Han Chinese major depressive disorders study, not in gnomad
x1 missense variant - highly conserved residue, not in gnomad
x2 other missense variant - highly conserved residue, low frequency in gnomad
Latter 4 missense variants cosegregated with affected individuals in the families

In Drosophila, seizure rate and duration were increased by Unc13b knockdown compared to wild-type flies, but these effects were less pronounced than in sodium voltage-gated channel alpha subunit 1 (Scn1a) knockdown Drosophila

De novo UNC13B variants previously reported in bipolar disorder and autism spectrum disorder
Sources: Expert list, Literature
Created: 5 Oct 2021, 9:39 a.m. | Last Modified: 5 Oct 2021, 9:42 a.m.
Panel Version: 0.1260

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epilepsy

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • Expert list
Phenotypes
  • Epilepsy
OMIM
605836
Clinvar variants
Variants in UNC13B
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

5 Oct 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: UNC13B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

5 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: unc13b has been classified as Red List (Low Evidence).

5 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: unc13b has been classified as Red List (Low Evidence).

5 Oct 2021, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: UNC13B was added gene: UNC13B was added to Genetic Epilepsy. Sources: Expert list,Literature Mode of inheritance for gene: UNC13B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UNC13B were set to 33876820 Phenotypes for gene: UNC13B were set to Epilepsy Penetrance for gene: UNC13B were set to unknown Review for gene: UNC13B was set to RED