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Newborns main panel

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

Arina Puzriakova (Genomics England Curator)

Special Consideration: Sex mismatch/DSD - phenotype can include differences of sex development in one or both sexes. This could be the cause of an apparent mismatch between the genotypic sex and the phenotypic sex entered at the point of sample registration.

Additional Information: This gene can be associated with DSD. In particular 46XY individuals present with abnormalities of the external genitalia.
Created: 26 Sep 2024, 3:37 p.m. | Last Modified: 26 Sep 2024, 3:37 p.m.
Panel Version: 0.469
Special Consideration: Internal inclusion list only
Created: 26 Sep 2024, 3:36 p.m. | Last Modified: 25 Oct 2024, 10:46 a.m.
Panel Version: 0.469
Created: 26 Sep 2024, 3:36 p.m.
Last Modified: 25 Oct 2024, 10:46 a.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is gain-of-function (GOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 36060959 - references 50 patients
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: SAMD9.

23 Nov 2023, Gel status: 3

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag internal_inclusion_list_only tag was added to gene: SAMD9.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes MIRAGE syndrome for gene: SAMD9

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes MIRAGE syndrome for gene: SAMD9

31 May 2023, Gel status: 3

Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag GOF was removed from gene: SAMD9.

31 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SAMD9. Added phenotypes MIRAGE syndrome for gene: SAMD9 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to SAMD9. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag GOF tag was added to gene: SAMD9.

9 Mar 2023, Gel status: 3

Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

Mode of pathogenicity for gene: SAMD9 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes MIRAGE syndrome for gene: SAMD9

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: SAMD9 was added gene: SAMD9 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: SAMD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown