Inherited non-medullary thyroid cancer

Gene: SRRM2

Red List (low evidence)

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

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

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
Panels with this gene

History Filter Activity

7 Aug 2017, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

All genes have been reviewed and the reviews evaluated. 07.08.2017

26 Jun 2017, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

26 Jun 2017, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SRRM2 were set to predisposition papillary thyroid carcinoma

26 Jun 2017, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

26 Jun 2017, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for SRRM2 were set to 26135620

21 Jun 2017, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for SRRM2 were set to https://doi.org/10.1016/j.mpdhp.2016.02.005

13 Jun 2017, Gel status: 0

Added New Source

Emma Woodward (Manchester Centre for Genomic Medicine)

SRRM2 was added to Inherited non-medullary thyroid cancerpanel. Sources: Literature

13 Jun 2017, Gel status: 0

Created

Emma Woodward (Manchester Centre for Genomic Medicine)

SRRM2 was created by Emma Woodward