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| Inherited predisposition to acute myeloid leukaemia (AML) v1.16 | RTEL1 | Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (MIM# 616373) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v1.16 | RTEL1 | Arina Puzriakova Phenotypes for gene: RTEL1 were changed from Dyskeratosis congenita, autosomal dominant 4 615190; Dyskeratosis congenita, autosomal recessive 5 615190; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 616373 to Dyskeratosis congenita, autosomal dominant 4, OMIM:615190; Dyskeratosis congenita, autosomal recessive 5, OMIM:615190 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.25 | RTEL1 | Louise Daugherty Classified gene: RTEL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.25 | RTEL1 | Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.25 | RTEL1 | Louise Daugherty Gene: rtel1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.16 | RTEL1 |
Paula Page gene: RTEL1 was added gene: RTEL1 was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Literature,Research Mode of inheritance for gene: RTEL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RTEL1 were set to PMID: 30466750; PMID: 29146883 Phenotypes for gene: RTEL1 were set to Dyskeratosis congenita, autosomal dominant 4 615190; Dyskeratosis congenita, autosomal recessive 5 615190; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 616373 Penetrance for gene: RTEL1 were set to unknown Review for gene: RTEL1 was set to GREEN Added comment: Barts have requested for this gene to be included on the next version of WWMGLH familial MDS/AML panel. Telomere biology associated gene. Testing recommended in Obrochta and Godley (Best Pract Res Clin Haematol. 2018 Dec;31(4):373-378). The WHO doesn't specify which genes are associated with telomere biology disorders and it is not listed as a TBD in AML ELN Recommendations. In the Telomerase database and associated with MDS, DC and IPF. Recommend Tom Vulliamy's opinion. Sources: Literature, Research |
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