Cytopenias and congenital anaemiasGene: ERCC6L2
2 families, convincing functional evidence
Created: 6 Jul 2018, 11:53 a.m.
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.
Bone marrow failure syndrome 2, 615715 (3)
Gene: ercc6l2 has been classified as Green List (High Evidence).
Phenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, 615715
Publications for gene: ERCC6L2 were set to 24507776; 27185855
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
ERCC6L2 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Amber
Mode of inheritance for ERCC6L2 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for ERCC6L2 were set to Bone marrow failure syndrome 2, 615715
Publications for ERCC6L2 were set to 24507776
ERCC6L2 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen
ERCC6L2 was created by LouiseD