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Mackenzie's Mission_Reproductive Carrier Screening

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

Sarah Righetti (University of New South Wales)

I don't know

Associated with both AD and AR disease. AR form is normophosphatemic familial tumoral calcinosis.

8 individuals in 5 families of Jewish Yemenite origin. All homozygous for K1495E (16960814)

Dizygotic twins, compound het for K1495 and R344X (18094730)

Enough evidence for gene-disease association but only two variants reported in literature, rare and confined to Jewish Yemenite community. Lots of LOF variants which are VUS in ClinVar means it is difficult to call variants in screening context => remove from list.
Created: 24 Jul 2021, 12:26 a.m. | Last Modified: 24 Jul 2021, 12:26 a.m.
Panel Version: 0.102

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Tumoral calcinosis, familial, normophosphatemic, MIM# 610455

Publications

Created: 24 Jul 2021, 12:26 a.m.
Last Modified: 24 Jul 2021, 12:26 a.m.
Panel version: 0.102

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Tumoral calcinosis, familial, normophosphatemic, 610455 (3)
OMIM
610456
Clinvar variants
Variants in SAMD9
Penetrance
None
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SAMD9 was added gene: SAMD9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SAMD9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SAMD9 were set to Tumoral calcinosis, familial, normophosphatemic, 610455 (3)