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DDG2P

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy, OMIM:617053 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 28346228;27182967).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy, OMIM:617053

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 3.12

Rebecca Foulger (Genomics England curator)

Comment on mode of inheritance: No MOI is given for DDG2P SAMD9 Disease: MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy. Have set MOI to 'monoallelic' to match OMIM (MIRAGE syndrome, 617053).
Created: 28 Jan 2019, 4:59 p.m.
New gene:disorder association added to DDG2P on 04/12/2018: MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy. Original DDG2P rating for MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy: confirmed. No MOI listed in DDG2P for MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy. No MOP listed in DDG2P for MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy.
Created: 6 Dec 2018, 11:01 a.m.
Created: 6 Dec 2018, 11:01 a.m.

Panel version: 0.18

History Filter Activity

4 Oct 2023, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene SAMD9 was changed from to Other

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: New gene:disorder association

28 Jan 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

6 Dec 2018, 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 DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SAMD9 was set to 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