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Newborns main panel

Gene: ERCC2

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Awareness.

Additional Information: chr19:45352249:G:C and chr19:45357368:G:C can be prioritised as compound heterozygous in the pipeline; however, these are typically in cis and form a complex allele, which requires a third variant to be considered pathogenic.
Created: 26 Sep 2024, 12:34 p.m. | Last Modified: 26 Sep 2024, 12:34 p.m.
Panel Version: 0.469
Created: 26 Sep 2024, 12:34 p.m.
Last Modified: 26 Sep 2024, 12:34 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
This gene-disease association has been rated AMBER as it has been assigned category 2O. O=No confirmatory test or the confirmatory test is unreliable. Expert clinical and genomic laboratory input should be sought.
Created: 1 Jun 2023, 2:08 p.m. | Last Modified: 1 Jun 2023, 2:08 p.m.
Panel Version: 0.136
ERCC2 curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: ERCC2.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Xeroderma pigmentosum, group D for gene: ERCC2

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to ERCC2. Added phenotypes Xeroderma pigmentosum, group D for gene: ERCC2 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to ERCC2. Added phenotypes Xeroderma pigmentosum, group D for gene: ERCC2 Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to ERCC2. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Xeroderma pigmentosum, group D for gene: ERCC2

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: ERCC2 was added gene: ERCC2 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal