Haematological malignancies cancer susceptibility
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
Clare Turnbull (Queen Mary University London)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Curated sources
- Phenotypes
-
- Class: miscellaneous
- Ataxia Pancytopenia Syndrome
- MDS, AML
- OMIM
- 611170
- Clinvar variants
- Variants in SAMD9L
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Haematological malignancies for rare disease
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Inherited predisposition to acute myeloid leukaemia (AML)
- Hereditary neuropathy or pain disorder
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- DDG2P
- COVID-19 research
History Filter Activity
7 Sep 2018, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Ellen McDonagh: Comment on mode of inheritance
30 Jan 2018, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)Expert Review Green was added to SAMD9L. Panel: Haematological malignancies pertinent cancer susceptibility
21 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SAMD9L was created by ellenmcdonagh
21 Jun 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)SAMD9L was added to Haematological malignanciespanel. Sources: Curated sources