Radial dysplasia
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
1 review
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Multi-system disorder but without a strong radial component. Therefore not considered of phenotypic relevance to this panel, however I will review which other panels SAMD9 should be added to.Created: 11 May 2017, 1:51 p.m.
Phenotype is not in keeping with radial dysplasia panel, although there is sufficient evidence for causation.Created: 11 May 2017, 9:19 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MIRAGE syndrome 617053
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Other
- Phenotypes
-
- MIRAGE syndrome 617053
- OMIM
- 610456
- Clinvar variants
- Variants in SAMD9
- Penetrance
- Complete
- Panels with this gene
-
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Fetal anomalies
- Radial dysplasia
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Multiple monogenic benign skin tumours
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Gastrointestinal neuromuscular disorders
- Differences in sex development
- Pigmentary skin disorders
- Monogenic short stature
- Familial Hirschsprung Disease
- Congenital adrenal hypoplasia
- Inherited predisposition to acute myeloid leukaemia (AML)
- Intellectual disability
- Familial tumoral calcinosis
- IUGR and IGF abnormalities
- DDG2P
- Gastrointestinal epithelial barrier disorders
History Filter Activity
23 May 2017, Gel status: 1
panel promoted to version 1
Rebecca Foulger (Genomics England curator)23.05.2017: Panel revised and approved to Version 1.0 after expert review.
11 May 2017, Gel status: 1
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
11 May 2017, Gel status: 0
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for SAMD9 were set to MIRAGE syndrome 617053
18 Oct 2016, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)SAMD9 was added to Radial dysplasiapanel. Sources: Other
18 Oct 2016, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)SAMD9 was created by rfoulger