Inherited predisposition to acute myeloid leukaemia (AML)
Gene: SAMD9L
SAMD9L (sterile alpha motif domain containing 9 like)
EnsemblGeneIds (GRCh38): ENSG00000177409
EnsemblGeneIds (GRCh37): ENSG00000177409
OMIM: 611170, Gene2Phenotype
SAMD9L is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000177409
EnsemblGeneIds (GRCh37): ENSG00000177409
OMIM: 611170, Gene2Phenotype
SAMD9L is in 11 panels
1 review
Arina Puzriakova (Genomics England Curator)
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.Created: 8 Mar 2022, 11:51 a.m. | Last Modified: 8 Mar 2022, 11:51 a.m.
Panel Version: 1.21
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Monosomy 7 myelodysplasia and leukemia syndrome 1, OMIM:252270
- OMIM
- 611170
- Clinvar variants
- Variants in SAMD9L
- Penetrance
- None
- Publications
- Panels with this gene
-
- Haematological malignancies for rare disease
- Hereditary ataxia with onset in adulthood
- Cytopenia - NOT Fanconi anaemia
- Inherited predisposition to acute myeloid leukaemia (AML)
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Haematological malignancies cancer susceptibility
- Intellectual disability
- Hereditary neuropathy or pain disorder
- COVID-19 research
History Filter Activity
8 Mar 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)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