Inherited non-medullary thyroid cancer
Gene: SRRM2

SRRM2 (serine/arginine repetitive matrix 2)
EnsemblGeneIds (GRCh38): ENSG00000167978
EnsemblGeneIds (GRCh37): ENSG00000167978
OMIM: 606032, Gene2Phenotype
SRRM2 is in 3 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: One variant reported to segregate in a family with papillary thyroid carcinoma predisposition. Data suggest that S346F (rs149019598) in SRRM2 predisposes to PTC by affecting alternative splicing of unidentified downstream target genes
Created: 26 Jun 2017, 3:15 p.m.

Created: 26 Jun 2017, 3:15 p.m.

Panel version: 0.24

Emma Woodward (Manchester Centre for Genomic Medicine)

Red List (low evidence)

one publication only. no clear clinical utility
Created: 13 Jun 2017, 3:51 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 13 Jun 2017, 3:51 p.m.

Panel version: 0.5

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red

Phenotypes

predisposition papillary thyroid carcinoma

OMIM

606032

Clinvar variants

Variants in SRRM2

Penetrance

Complete

Publications

26135620

Panels with this gene