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Fetal anomalies

Gene: SAMD9

Green List (high evidence)

SAMD9 (sterile alpha motif domain containing 9)
EnsemblGeneIds (GRCh38): ENSG00000205413
EnsemblGeneIds (GRCh37): ENSG00000205413
OMIM: 610456, Gene2Phenotype
SAMD9 is in 12 panels

1 review

Seb Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene disease association. DSD, skeletal features (incl. scoliosis, club feet, overlapping fingers) and hydrocephalus (rare) may be picked up antenatally.
Created: 8 Nov 2021, 3:22 a.m. | Last Modified: 8 Nov 2021, 3:22 a.m.
Panel Version: 0.177

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
MIRAGE syndrome, MIM#617053

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • MIRAGE syndrome, MIM#617053
OMIM
610456
Clinvar variants
Variants in SAMD9
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

8 Nov 2021, Gel status: 3

Removed Source, Added New Source, Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Source Genomics England PanelApp was removed from SAMD9. Source Literature was added to SAMD9. Phenotypes for gene: SAMD9 were changed from MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy to MIRAGE syndrome, MIM#617053

8 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: samd9 has been classified as Green List (High Evidence).

24 Oct 2021, Gel status: 3

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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SAMD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SAMD9 were set to 28346228; 27182967 Phenotypes for gene: SAMD9 were set to MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy Mode of pathogenicity for gene: SAMD9 was set to Other