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Mendeliome v1.424 COL13A1 Zornitza Stark Tag treatable tag was added to gene: COL13A1.
Mendeliome v0.2607 COL13A1 Zornitza Stark Marked gene: COL13A1 as ready
Mendeliome v0.2607 COL13A1 Zornitza Stark Gene: col13a1 has been classified as Green List (High Evidence).
Mendeliome v0.2607 COL13A1 Zornitza Stark Phenotypes for gene: COL13A1 were changed from to Myasthenic syndrome, congenital, 19 (OMIM #616720)
Mendeliome v0.2606 COL13A1 Zornitza Stark Publications for gene: COL13A1 were set to
Mendeliome v0.2605 COL13A1 Zornitza Stark Mode of inheritance for gene: COL13A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2602 COL13A1 Hazel Phillimore reviewed gene: COL13A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31081514, 28369367, 20844119; Phenotypes: Myasthenic syndrome, congenital, 19 (OMIM #616720); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.0 COL13A1 Zornitza Stark gene: COL13A1 was added
gene: COL13A1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL13A1 was set to Unknown