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| Inherited predisposition to acute myeloid leukaemia (AML) v1.21 | SAMD9L | Arina Puzriakova reviewed gene: SAMD9L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v1.20 | SAMD9L |
Arina Puzriakova gene: SAMD9L was added gene: SAMD9L was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Expert Review Green Mode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SAMD9L were set to 11172908; 10640152 Phenotypes for gene: SAMD9L were set to Monosomy 7 myelodysplasia and leukemia syndrome 1, OMIM:252270 |
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| Inherited predisposition to acute myeloid leukaemia (AML) v1.18 | SAMD9 | Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with MIRAGE syndrome (MIM# 617053) and Tumoral calcinosis, familial, normophosphatemic (MIM# 610455) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v1.18 | SAMD9 | Arina Puzriakova Phenotypes for gene: SAMD9 were changed from MIRAGE syndrome 617053 to Monosomy 7 myelodysplasia and leukemia syndrome 2, OMIM:619041 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v1.17 | SAMD9 | Arina Puzriakova Publications for gene: SAMD9 were set to PMID: 30466750; PMID: 29146883 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.26 | SAMD9 | Louise Daugherty Classified gene: SAMD9 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.26 | SAMD9 | 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) v0.26 | SAMD9 | Louise Daugherty Gene: samd9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.16 | SAMD9 |
Paula Page gene: SAMD9 was added gene: SAMD9 was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Literature,Research Mode of inheritance for gene: SAMD9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SAMD9 were set to PMID: 30466750; PMID: 29146883 Phenotypes for gene: SAMD9 were set to MIRAGE syndrome 617053 Penetrance for gene: SAMD9 were set to unknown Mode of pathogenicity for gene: SAMD9 was set to Other Review for gene: SAMD9 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. It is associated with bone marrow failure syndromes. 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 BMFS. Recommend Tom Vulliamy's opinion. Sources: Literature, Research |
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