IBMDx study
Gene: SAMD9
SAMD9 (sterile alpha motif domain containing 9)
EnsemblGeneIds (GRCh38): ENSG00000205413
EnsemblGeneIds (GRCh37): ENSG00000205413
OMIM: 610456, Gene2Phenotype
SAMD9 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000205413
EnsemblGeneIds (GRCh37): ENSG00000205413
OMIM: 610456, Gene2Phenotype
SAMD9 is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Four molecularly confirmed individuals from three families. Anaemia, thrombocytopaenia, leukopaenia and recurrent infections.
Sources: Expert listCreated: 10 Jan 2020, 3:42 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
MIRAGE syndrome, MIM#617053
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- IBMDx Study
- Expert Review Green
- Expert list
- Phenotypes
-
- MIRAGE syndrome, MIM#617053
- OMIM
- 610456
- Clinvar variants
- Variants in SAMD9
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Prepair 1000+
- Gastrointestinal neuromuscular disease
- Mendeliome
- Inflammatory bowel disease
- IBMDx study
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Differences of Sex Development
- Growth failure
History Filter Activity
10 Dec 2021, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SAMD9 was added gene: SAMD9 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: SAMD9 was set to Unknown Phenotypes for gene: SAMD9 were set to MIRAGE syndrome, MIM#617053