Inherited predisposition to acute myeloid leukaemia (AML)
Gene: SAMD9Comment on phenotypes: This gene is also associated with MIRAGE syndrome (MIM# 617053) and Tumoral calcinosis, familial, normophosphatemic (MIM# 610455)Created: 3 Mar 2021, 5:59 p.m. | Last Modified: 3 Mar 2021, 5:59 p.m.
Panel Version: 1.18
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 AmberCreated: 18 Mar 2019, 4:30 p.m.
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, ResearchCreated: 7 Mar 2019, 12:46 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
MIRAGE syndrome 617053
Publications
Mode of pathogenicity
Other
Phenotypes for gene: SAMD9 were changed from MIRAGE syndrome 617053 to Monosomy 7 myelodysplasia and leukemia syndrome 2, OMIM:619041
Publications for gene: SAMD9 were set to PMID: 30466750; PMID: 29146883
Gene: samd9 has been classified as Amber List (Moderate Evidence).
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