Activity

Filter

Cancel
Date Panel Item Activity
20 actions
Mendeliome v0.11690 SAMD9 Zornitza Stark Marked gene: SAMD9 as ready
Mendeliome v0.11690 SAMD9 Zornitza Stark Gene: samd9 has been classified as Green List (High Evidence).
Mendeliome v0.11690 SAMD9 Zornitza Stark Phenotypes for gene: SAMD9 were changed from to MIRAGE syndrome, MIM#617053; Tumoral calcinosis, familial, normophosphatemic, MIM#610455; Monosomy 7 myelodysplasia and leukemia syndrome 2, MIM# 619041
Mendeliome v0.11689 SAMD9 Zornitza Stark Publications for gene: SAMD9 were set to
Mendeliome v0.11688 SAMD9 Zornitza Stark Mode of inheritance for gene: SAMD9 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11687 SAMD9 Zornitza Stark reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: MIRAGE syndrome, MIM#617053, Tumoral calcinosis, familial, normophosphatemic, MIM#610455, Monosomy 7 myelodysplasia and leukemia syndrome 2, MIM# 619041; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11659 SAMD9 Samantha Ayres reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: None; Publications: 33237688, 32619790, 16960814, 18094730; Phenotypes: MIRAGE syndrome, MIM#617053, Tumoral calcinosis, familial, normophosphatemic, MIM#610455, Monosomy 7 myelodysplasia and leukemia syndrome 2, MIM#619041; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.8268 SAMD9L Zornitza Stark Phenotypes for gene: SAMD9L were changed from Ataxia-pancytopenia syndrome, MIM# 159550 to Ataxia-pancytopenia syndrome, MIM# 159550; Intellectual disability
Mendeliome v0.8267 SAMD9L Zornitza Stark Publications for gene: SAMD9L were set to 27259050; 30923096; 30322869
Mendeliome v0.8266 SAMD9L Zornitza Stark edited their review of gene: SAMD9L: Changed publications: 27259050, 30923096, 30322869, 33710394
Mendeliome v0.2013 SAMD9L Zornitza Stark Marked gene: SAMD9L as ready
Mendeliome v0.2013 SAMD9L Zornitza Stark Gene: samd9l has been classified as Green List (High Evidence).
Mendeliome v0.2013 SAMD9L Zornitza Stark Phenotypes for gene: SAMD9L were changed from to Ataxia-pancytopenia syndrome, MIM# 159550
Mendeliome v0.2012 SAMD9L Zornitza Stark Publications for gene: SAMD9L were set to
Mendeliome v0.2011 SAMD9L Zornitza Stark Mode of pathogenicity for gene: SAMD9L was changed from to Other
Mendeliome v0.2010 SAMD9L Zornitza Stark Mode of inheritance for gene: SAMD9L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2009 SAMD9L Zornitza Stark edited their review of gene: SAMD9L: Changed mode of pathogenicity: Other
Mendeliome v0.2009 SAMD9L Zornitza Stark reviewed gene: SAMD9L: Rating: GREEN; Mode of pathogenicity: None; Publications: 27259050, 30923096, 30322869; Phenotypes: Ataxia-pancytopenia syndrome, MIM# 159550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.0 SAMD9L Zornitza Stark gene: SAMD9L was added
gene: SAMD9L was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SAMD9L was set to Unknown
Mendeliome v0.0 SAMD9 Zornitza Stark gene: SAMD9 was added
gene: SAMD9 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SAMD9 was set to Unknown