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Prepair 1000+

Gene: SAMD9

Red List (low evidence)

SAMD9 (sterile alpha motif domain containing 9)
EnsemblGeneIds (GRCh38): ENSG00000205413
EnsemblGeneIds (GRCh37): ENSG00000205413
OMIM: 610456, Gene2Phenotype
SAMD9 is in 12 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Red List (low evidence)

1. MIRAGE syndrome, AD (MIM#617053) - Gain-of-function
2. Monosomy 7 myelodysplasia and leukemia syndrome 2, AD (MIM#619041)
3. Normophosphatemic familial tumoral calcinosis, AR (MIM#610455) - Loss-of-function

The association between mono-allelic variants and disease is well established.

Bi-allelic variants: in effect only two families reported (founder variant in 5 Jewish Yemenite families, plus one other). Insufficient evidence supporting gene disease association for the AR condition.
Created: 20 Jul 2022, 2:17 a.m. | Last Modified: 20 Jul 2022, 2:17 a.m.
Panel Version: 0.50

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
MIRAGE syndrome (MIM#617053); Monosomy 7 myelodysplasia and leukemia syndrome 2 (MIM#619041); Tumoral calcinosis, familial, normophosphatemic (MIM#610455)

Publications

Details

History Filter Activity

20 Jul 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: samd9 has been classified as Red List (Low Evidence).

20 Jul 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SAMD9 were set to

20 Jul 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: samd9 has been classified as Red List (Low Evidence).

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. 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)