Haematological malignancies for rare disease
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
-
- Curated sources
- Expert Review Green
- Phenotypes
-
- Class: miscellaneous
- Ataxia Pancytopenia Syndrome
- MDS, AML
- OMIM
- 611170
- Clinvar variants
- Variants in SAMD9L
- Penetrance
- None
- Publications
- Panels with this gene
-
- COVID-19 research
- Intellectual disability
- 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
- Hereditary neuropathy or pain disorder
- DDG2P
- Haematological malignancies cancer susceptibility
History Filter Activity
22 Aug 2018, Gel status: 4
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)22nd August 2018: Reviewed by Helen Brittain, and suggested changes approved by Clare Turnbull. Changes made prior to promoting to version 1.
10 Apr 2018, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)SAMD9L was added to Haematological malignancies for rare disease panel. Sources: Expert Review Green,Curated sources
10 Apr 2018, Gel status: 4
Created
Ellen McDonagh (Genomics England Curator)SAMD9L was created by Ellen McDonagh