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| Haematological malignancies cancer susceptibility v3.3 | ERCC6L2 |
Arina Puzriakova Tag Q2_22_rating was removed from gene: ERCC6L2. Tag Q2_22_NHS_review was removed from gene: ERCC6L2. |
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| Haematological malignancies cancer susceptibility v3.3 | ERCC6L2 | Arina Puzriakova reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v3.2 | ERCC6L2 |
Arina Puzriakova Source Expert Review Green was added to ERCC6L2. Source NHS GMS was added to ERCC6L2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Haematological malignancies cancer susceptibility v2.33 | ERCC6L2 | Eleanor Williams commented on gene: ERCC6L2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.33 | ERCC6L2 |
Eleanor Williams Tag Q3_21_NHS_review was removed from gene: ERCC6L2. Tag Q3_22_rating was removed from gene: ERCC6L2. Tag Q2_22_rating tag was added to gene: ERCC6L2. Tag Q2_22_NHS_review tag was added to gene: ERCC6L2. |
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| Haematological malignancies cancer susceptibility v2.33 | ERCC6L2 |
Sarah Leigh Tag Q3_21_NHS_review tag was added to gene: ERCC6L2. Tag Q3_22_rating tag was added to gene: ERCC6L2. |
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| Haematological malignancies cancer susceptibility v2.33 | ERCC6L2 | Sarah Leigh Phenotypes for gene: ERCC6L2 were changed from Bone marrow failure syndrome 2, 615715; MDS; AML to Bone marrow failure syndrome 2, OMIM:615715 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.32 | ERCC6L2 | Sarah Leigh Publications for gene: ERCC6L2 were set to PMID: 30936069; PMID: 31221794 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.31 | ERCC6L2 | Sarah Leigh Classified gene: ERCC6L2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.31 | ERCC6L2 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.31 | ERCC6L2 | Sarah Leigh Gene: ercc6l2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.30 | ERCC6L2 |
Angela Hamblin gene: ERCC6L2 was added gene: ERCC6L2 was added to Haematological malignancies cancer susceptibility. Sources: Literature Mode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC6L2 were set to PMID: 30936069; PMID: 31221794 Phenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, 615715; MDS; AML Review for gene: ERCC6L2 was set to GREEN gene: ERCC6L2 was marked as current diagnostic Added comment: ERCC6L2 is a relatively recently discovered gene in which biallelic germline LOF variants are associated with bone marrow failure syndrome and this gene already has green status is cytopenia panels on PanelApp. Over the last 3 years, with more widespread testing, it has become apparent that in addition to being associated with bone marrow failure it is also associated with the development of MDS / AML with the acquisition of pathogenic variants in the TP53 gene (lack of ERCC6L2 results in defects in the transcription-coupled nucleotide excision repair pathway, leading to genome instability). Initially described in Finland, a presentation at the American Society of Haematology 2021 https://doi.org/10.1182/blood-2021-145039 illustrated that there are a number of cases in other European countries now reported. I am aware that cases have also been detected within the GMS; the cytopenia panel has demonstrated the germline mutations, whereas these were not highlighted on the WGS performed for the subsequent AML owing to the fact the gene is not currently included on the applied germline panel. Detection of this germline variant is critical to management of these patients as currently it would mean an allogeneic HSCT is required (and as with any germline variant there would be implications for related donor choice). Sources: Literature |
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