This Panel is marked as Deleted
Immunological disorders_SuperPanel_PanelAppAustralia
Gene: SAMD9
SAMD9 (sterile alpha motif domain containing 9)
EnsemblGeneIds (GRCh38): ENSG00000205413
EnsemblGeneIds (GRCh37): ENSG00000205413
OMIM: 610456, Gene2Phenotype
SAMD9 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000205413
EnsemblGeneIds (GRCh37): ENSG00000205413
OMIM: 610456, Gene2Phenotype
SAMD9 is in 20 panels
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 610456
- Clinvar variants
- Variants in SAMD9
- Penetrance
- None
- Panels with this gene
-
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Radial dysplasia
- Intellectual disability
- Cytopenia - NOT Fanconi anaemia
- Multiple monogenic benign skin tumours
- Differences in sex development
- Cytopenias and congenital anaemias
- COVID-19 research
- Gastrointestinal neuromuscular disorders
- Familial Hirschsprung Disease
- Congenital adrenal hypoplasia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Inherited predisposition to acute myeloid leukaemia (AML)
- Familial tumoral calcinosis
- Pigmentary skin disorders
- IUGR and IGF abnormalities
- Monogenic short stature
- Fetal anomalies
- DDG2P
- Gastrointestinal epithelial barrier disorders
History Filter Activity
7 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Rebecca Foulger (Genomics England curator)gene: SAMD9 was added gene: SAMD9 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SAMD9 was set to Unknown