Inherited non-medullary thyroid cancer
Gene: HABP2

HABP2 (hyaluronan binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000148702
EnsemblGeneIds (GRCh37): ENSG00000148702
OMIM: 603924, Gene2Phenotype
HABP2 is in 2 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least one variant reported. Recent publications demonstrate that HABP2 p.G534E although frequent, does not segregate with non-medullary thyroid cancer. However, dysregulation of HABP2 expression is found in either sporadic or familial PTCs or normal thyroid tissues suggesting involvement of HABP2 in tumourogenesis (PMID 28222214)
Created: 7 Aug 2017, 8:46 a.m.

Created: 7 Aug 2017, 8:46 a.m.

Panel version: 0.45

Emma Woodward (Manchester Centre for Genomic Medicine)

Red List (low evidence)

no clear evidence linking germline mutation with FNMTC. The reported variant is present in ExAC with a frequency of 3% in European populations.
Created: 13 Jun 2017, 2:13 p.m.

Created: 13 Jun 2017, 2:13 p.m.

Panel version: 0.5

Fiona Lalloo (Manchester Centre for Genomic Medicine)

Red List (low evidence)

Data on this unclear. High frequency of variants in different populations. No clinical utility
Created: 9 Jun 2017, 9:21 a.m.

Created: 9 Jun 2017, 9:21 a.m.

Panel version: 0.5

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red
Literature

Phenotypes

{?Thyroid cancer, nonmedullary, 5} 616535

OMIM

603924

Clinvar variants

Variants in HABP2

Penetrance

Complete

Publications

Panels with this gene