Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Differences of Sex Development v0.59 SAMD9 Zornitza Stark Marked gene: SAMD9 as ready
Differences of Sex Development v0.59 SAMD9 Zornitza Stark Gene: samd9 has been classified as Green List (High Evidence).
Differences of Sex Development v0.59 SAMD9 Zornitza Stark Classified gene: SAMD9 as Green List (high evidence)
Differences of Sex Development v0.59 SAMD9 Zornitza Stark Gene: samd9 has been classified as Green List (High Evidence).
Differences of Sex Development v0.42 SAMD9 Crystle Lee 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
Added comment: At least 10 families ( 8 diff variants) reported in one publication. External genital abnormalities observed in all 46, XY patients.
Sources: Expert Review