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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 20 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Note that MOI for AD may be GOF and associated AR condition is not fetally relevant.
Created: 4 Apr 2019, 2:03 p.m.
Comment on mode of inheritance: Kept Mode of inheritance as 'monoallelic' following review of the gene by Anna de Burca (Genomics England) and Rhiannon Mellis (GOSH) in March 2019. They note that the associated AR condition (Tumoral calcinosis, familial, normophosphatemic, MIM:610455) is not fetally relevant.
Created: 4 Apr 2019, 12:50 p.m.
Comment on mode of pathogenicity: Changed the Mode of Pathogenicity to 'Other' following review of the gene by Anna de Burca (Genomics England) and Rhiannon Mellis (GOSH) in March 2019. They note that the AD inheritance may be gain-of-function.
Created: 4 Apr 2019, 12:49 p.m.
Comment on mode of inheritance: Mode of inheritance missing in DD-G2P at time SAMD9 was added to the panel. Set the MOI to monoallelic to match OMIM inheritance for MIRAGE syndrome (MIM:617053).
Created: 4 Mar 2019, 2:54 p.m.
New gene:disorder association added to DDG2P since PAGE download: MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy. DDG2P rating for MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy: confirmed. No MOI listed in DDG2P. No Mode of pathogenicity listed in DDG2P.
Created: 4 Mar 2019, 2:34 p.m.
Created: 4 Mar 2019, 2:34 p.m.

Panel version: 0.161

History Filter Activity

4 Apr 2019, Gel status: 4

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: SAMD9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

4 Apr 2019, Gel status: 4

Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

Mode of pathogenicity for gene: SAMD9 was changed from to Other

4 Mar 2019, Gel status: 4

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: SAMD9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

4 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: SAMD9 was added gene: SAMD9 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: SAMD9 was set to Publications for gene: SAMD9 were set to 27182967; 28346228 Phenotypes for gene: SAMD9 were set to MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy