1. Panels
  2. Genetic Epilepsy
  3. SEMA6B
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Genetic Epilepsy

Gene: SEMA6B

Green List (high evidence)
SEMA6B (semaphorin 6B)
EnsemblGeneIds (GRCh38): ENSG00000167680
EnsemblGeneIds (GRCh37): ENSG00000167680
OMIM: 608873, Gene2Phenotype
SEMA6B is in 3 panels

2 reviews

Dean Phelan (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 35604360
- 14 heterozygous variants were observed in 16 unrelated individuals referred for intellectual disability. Majority of the variants 9/14 were PTCs in the last exon and predicted to escape NMD. Functional studies of selected variants and shRNA knock down studies showed mislocalisation and abnormal protein function.
Created: 2 Jun 2022, 1:27 a.m. | Last Modified: 2 Jun 2022, 1:27 a.m.
Panel Version: 1.40

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability, MONDO:0001071, SEMA6B related

Publications

Created: 2 Jun 2022, 1:27 a.m.
Last Modified: 2 Jun 2022, 1:27 a.m.
Panel version: Imported from Mendeliome panel version 1.40

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Five individuals from unrelated families reported with de novo variants in the last exon, escaping NMD.
Sources: Literature
Created: 16 Mar 2020, 8:59 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Progressive myoclonic epilepsy

Publications

Mode of pathogenicity
Other

Created: 16 Mar 2020, 8:59 a.m.

Panel version: 0.632

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Progressive myoclonic epilepsy
OMIM
608873
Clinvar variants
Variants in SEMA6B
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

16 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sema6b has been classified as Green List (High Evidence).

16 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sema6b has been classified as Green List (High Evidence).

16 Mar 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SEMA6B was added gene: SEMA6B was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: SEMA6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SEMA6B were set to 32169168 Phenotypes for gene: SEMA6B were set to Progressive myoclonic epilepsy Mode of pathogenicity for gene: SEMA6B was set to Other Review for gene: SEMA6B was set to GREEN