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Fetal anomalies v0.179 SAMD9 Seb Lunke Source Genomics England PanelApp was removed from SAMD9.
Source Literature was added to SAMD9.
Phenotypes for gene: SAMD9 were changed from MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy to MIRAGE syndrome, MIM#617053
Fetal anomalies v0.177 SAMD9 Seb Lunke Marked gene: SAMD9 as ready
Fetal anomalies v0.177 SAMD9 Seb Lunke Gene: samd9 has been classified as Green List (High Evidence).
Fetal anomalies v0.177 SAMD9 Seb Lunke reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: None; Publications: 27182967; Phenotypes: MIRAGE syndrome, MIM#617053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.0 SAMD9 Zornitza Stark gene: SAMD9 was added
gene: SAMD9 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SAMD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SAMD9 were set to 28346228; 27182967
Phenotypes for gene: SAMD9 were set to MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy
Mode of pathogenicity for gene: SAMD9 was set to Other