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Mendeliome v0.2389 ASCC1 Zornitza Stark Marked gene: ASCC1 as ready
Mendeliome v0.2389 ASCC1 Zornitza Stark Gene: ascc1 has been classified as Green List (High Evidence).
Mendeliome v0.2389 ASCC1 Zornitza Stark Phenotypes for gene: ASCC1 were changed from to Spinal muscular atrophy with congenital bone fractures 2, MIM#616867
Mendeliome v0.2388 ASCC1 Zornitza Stark Publications for gene: ASCC1 were set to
Mendeliome v0.2387 ASCC1 Zornitza Stark Mode of inheritance for gene: ASCC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2361 ASCC1 Sarah Pantaleo reviewed gene: ASCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30327447, 12077347, 26924529, 31880396, 26503956; Phenotypes: Arthrogryposis, congenital bone fractures, spinal muscular atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.0 ASCC1 Zornitza Stark gene: ASCC1 was added
gene: ASCC1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ASCC1 was set to Unknown