Inherited non-medullary thyroid cancer
Gene: NDUFA13

NDUFA13 (NADH:ubiquinone oxidoreductase subunit A13)
EnsemblGeneIds (GRCh38): ENSG00000186010
EnsemblGeneIds (GRCh37): ENSG00000186010
OMIM: 609435, Gene2Phenotype
NDUFA13 is in 5 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
Created: 7 Aug 2017, 11:41 a.m.

Created: 7 Aug 2017, 11:41 a.m.

Panel version: 0.50

Emma Woodward (Manchester Centre for Genomic Medicine)

one publication only describing germline alteration in NMTC, of limited clinical utility

Created: 13 Jun 2017, 2:24 p.m.

Created: 13 Jun 2017, 2:24 p.m.

Panel version: 0.5

Fiona Lalloo (Manchester Centre for Genomic Medicine)

Red List (low evidence)

May be useful in pathological classification. One family described with germline variant. No current clinical utility
Created: 9 Jun 2017, 9:30 a.m.

Created: 9 Jun 2017, 9:30 a.m.

Panel version: 0.5

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red
Literature

Phenotypes

papillary thyroid carcinoma (predominantly Hurthle cells) 607464

OMIM

609435

Clinvar variants

Variants in NDUFA13

Penetrance

Complete

Publications

15841082

Panels with this gene