Inherited non-medullary thyroid cancer

Gene: SEC23B

Green List (high evidence)

SEC23B (Sec23 homolog B, coat complex II component)
EnsemblGeneIds (GRCh38): ENSG00000101310
EnsemblGeneIds (GRCh37): ENSG00000101310
OMIM: 610512, Gene2Phenotype
SEC23B is in 12 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. PMID 26522472 reports 2 variants: p.V594G in 5 members of a large family and functional analysis in transfected HEK293T cells showed aberrant aggregation of SEC23B and significantly increased cell migration and upregulation of epithelial-to-mesenchymal transition genes with the V594G mutant compared to wildtype, suggesting a cancer-relevant effect. And p.V164L in two unrelated women.
Created: 7 Aug 2017, 1:20 p.m.

Emma Woodward (Manchester Centre for Genomic Medicine)

Red List (low evidence)

clinical utility not yet clear. one publication demonstrating germline involvement in apparently sporadic NMTC.
Created: 13 Jun 2017, 3:02 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cowden syndrome 7 616858
OMIM
610512
Clinvar variants
Variants in SEC23B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

7 Aug 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

All genes have been reviewed and the reviews evaluated. 07.08.2017

7 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

18 May 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SEC23B was created by sleigh

18 May 2017, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

SEC23B was added to Inherited non-medullary thyroid cancerpanel. Sources: Radboud University Medical Center, Nijmegen