Sarcoma susceptibility
Gene: ERCC2

ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit)
EnsemblGeneIds (GRCh38): ENSG00000104884
EnsemblGeneIds (GRCh37): ENSG00000104884
OMIM: 126340, Gene2Phenotype
ERCC2 is in 16 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

This gene was added to the panel as suggested by Dr Fernanda Amary (Royal National Orthopaedic Hospital, NHS Trust). Gene Symbol submitted: ERCC2; Evidence for inclusion: PMID:27498913. Rated Amber as agreed at the Genomics Cancer Panel Workshop, 16th July 2019.
Created: 23 Jul 2019, 3:16 p.m. | Last Modified: 23 Jul 2019, 3:16 p.m.

Panel Version: 0.2

Created: 23 Jul 2019, 3:16 p.m.
Last Modified: 23 Jul 2019, 3:16 p.m.
Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Amber
Expert list

Phenotypes

Sarcoma, MONDO:0005089

OMIM

126340

Clinvar variants

Variants in ERCC2

Penetrance

None

Publications

27498913

Panels with this gene

History Filter Activity

11 Mar 2021, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: ERCC2 was changed from to BIALLELIC, autosomal or pseudoautosomal

11 Mar 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ERCC2 were changed from to Sarcoma, MONDO:0005089

1 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to ERCC2.

23 Jul 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications