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  3. SAMD9
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Differences of Sex Development

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

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

At least 10 families ( 8 diff variants) reported in one publication. External genital abnormalities observed in all 46, XY patients.
Sources: Expert Review
Created: 13 Jul 2020, 3:17 a.m.

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

Phenotypes
MIRAGE syndrome (MIM#617053)

Publications

Created: 13 Jul 2020, 3:17 a.m.

Panel version: 0.42

History Filter Activity

13 Jul 2020, 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).

13 Jul 2020, 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).

13 Jul 2020, Gel status: 0

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

Crystle Lee (Victorian Clinical Genetics Services)

gene: SAMD9 was added gene: SAMD9 was added to Disorders of Sex Differentiation. Sources: Expert Review Mode of inheritance for gene: SAMD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SAMD9 were set to 27182967 Phenotypes for gene: SAMD9 were set to MIRAGE syndrome (MIM#617053) Review for gene: SAMD9 was set to GREEN