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Intellectual disability syndromic and non-syndromic

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variable neurodevelopmental phenotype as noted.
Created: 23 May 2024, 5:47 a.m. | Last Modified: 23 May 2024, 5:47 a.m.
Panel Version: 0.5898

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
MIRAGE Syndrome, MIM#617053

Raluca Rusu (Other)

Red List (low evidence)

Variants in SAMD9 have been reported in the literature in association with MIRAGE syndrome through a gain of function mechanism. Reported phenotypes in these patients include myelodysplasia, recurrent infections, restricted growth, adrenal hypoplasia and genital phenotypes. At least seven different studies reported eight different individuals with molecularly confirmed SAMD9 variants who also presented with a neurodevelopmental phenotype presenting with developmental delay and variable cognitive impairment with severe language delay in addition to the typical MIRAGE syndrome phenotype.
https://doi.org/10.1016/j.dscb.2022.100045- additional paper describing three siblings with MIRAGE syndrome and variable degrees of cognitive impairment.
Reported life span in most MIRAGE syndrome patients is below 3 years, hence cognitive function might not be properly assessed in majority of these patients.

Refuting evidence:
PMID: 31572304- inherited SAMD9 variant described- proband presented with typical MIRAGE phenotype early in infancy after which phenotype improved with no cognitive impairment reported at 14 years of age. Variant inherited from her phenotypically unaffected mother. Both mother and daughter had an additional somatically acquired revertant nonsense variant found in cis. Revertant variant would have only occurred in the haematopoietic linage which does not explain the lack of phenotypes affecting other systems such as lack of cognitive impairment in this patient and her mother.
Created: 22 May 2024, 10:12 a.m. | Last Modified: 22 May 2024, 10:12 a.m.
Panel Version: 0.5881

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
MIRAGE Syndrome, MIM#617053

Publications

Mode of pathogenicity
Other

History Filter Activity

23 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

23 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SAMD9 were changed from MIRAGE Syndrome, MIM#617053 to MIRAGE Syndrome, MIM#617053

23 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SAMD9 were changed from to MIRAGE Syndrome, MIM#617053

23 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SAMD9 were set to

23 May 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SAMD9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SAMD9 was added gene: SAMD9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SAMD9 was set to Unknown