Growth failure
Gene: SAMD9EnsemblGeneIds (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. Short stature is a feature.Created: 29 Aug 2021, 5:26 a.m. | Last Modified: 29 Aug 2021, 5:26 a.m.
Panel Version: 0.334
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
MIRAGE syndrome, MIM#617053
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- MIRAGE syndrome, 617053
- OMIM
- 610456
- Clinvar variants
- Variants in SAMD9
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: samd9 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: samd9 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SAMD9 was added gene: SAMD9 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: SAMD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SAMD9 were set to 27182967 Phenotypes for gene: SAMD9 were set to MIRAGE syndrome, 617053 Mode of pathogenicity for gene: SAMD9 was set to Other - please provide details in the comments