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Cytopenias and congenital anaemias

Gene: ERCC6L2

Green List (high evidence)

ERCC6L2 (ERCC excision repair 6 like 2)
EnsemblGeneIds (GRCh38): ENSG00000182150
EnsemblGeneIds (GRCh37): ENSG00000182150
OMIM: 615667, Gene2Phenotype
ERCC6L2 is in 10 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

2 families, convincing functional evidence
Created: 6 Jul 2018, 11:53 a.m.

Sarah Leigh (Genomics England Curator)

I don't know

Associated with phenotype in OMIM and as a confirmed G2P. At least 2variants reported together with supporting in vitro data.
Created: 9 Mar 2017, 4:32 p.m.

Phenotypes
Bone marrow failure syndrome 2, 615715 (3)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bone marrow failure syndrome 2, 615715
OMIM
615667
Clinvar variants
Variants in ERCC6L2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: ercc6l2 has been classified as Green List (High Evidence).

6 Jul 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, 615715

6 Jul 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ERCC6L2 were set to 24507776; 27185855

11 Mar 2017, Gel status: 2

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

9 Mar 2017, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

ERCC6L2 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Amber

7 Mar 2017, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for ERCC6L2 was changed to BIALLELIC, autosomal or pseudoautosomal

7 Mar 2017, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ERCC6L2 were set to Bone marrow failure syndrome 2, 615715

7 Mar 2017, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ERCC6L2 were set to 24507776

17 Feb 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

ERCC6L2 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

ERCC6L2 was created by LouiseD