Inherited predisposition to acute myeloid leukaemia (AML)
Gene: SAMD9EnsemblGeneIds (GRCh38): ENSG00000205413
EnsemblGeneIds (GRCh37): ENSG00000205413
OMIM: 610456, Gene2Phenotype
SAMD9 is in 20 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
Comment 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
Louise Daugherty (Genomics England Curator)
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.
Paula Page (WWMGLH)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Monosomy 7 myelodysplasia and leukemia syndrome 2, OMIM:619041
- OMIM
- 610456
- Clinvar variants
- Variants in SAMD9
- Penetrance
- unknown
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Radial dysplasia
- Cytopenia - NOT Fanconi anaemia
- Inherited predisposition to acute myeloid leukaemia (AML)
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Multiple monogenic benign skin tumours
- DDG2P
- Gastrointestinal neuromuscular disorders
- Intellectual disability
- Differences in sex development
- Pigmentary skin disorders
- Monogenic short stature
- Familial Hirschsprung Disease
- COVID-19 research
- Congenital adrenal hypoplasia
- Familial tumoral calcinosis
- IUGR and IGF abnormalities
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SAMD9 were changed from MIRAGE syndrome 617053 to Monosomy 7 myelodysplasia and leukemia syndrome 2, OMIM:619041
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: SAMD9 were set to PMID: 30466750; PMID: 29146883
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: samd9 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity
Paula Page (WWMGLH)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