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Mendeliome v0.13668 COL4A4 Ain Roesley Marked gene: COL4A4 as ready
Mendeliome v0.13668 COL4A4 Ain Roesley Gene: col4a4 has been classified as Green List (High Evidence).
Mendeliome v0.13668 COL4A4 Ain Roesley Phenotypes for gene: COL4A4 were changed from to Alport syndrome 2, autosomal recessive MIM#203780; Hematuria, familial benign MIM#141200
Mendeliome v0.13667 COL4A4 Ain Roesley Publications for gene: COL4A4 were set to
Mendeliome v0.13667 COL4A4 Ain Roesley Mode of inheritance for gene: COL4A4 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.13666 COL4A4 Ain Roesley reviewed gene: COL4A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301386; Phenotypes: Alport syndrome 2, autosomal recessive MIM#203780, Hematuria, familial benign MIM#141200; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.0 COL4A4 Zornitza Stark gene: COL4A4 was added
gene: COL4A4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL4A4 was set to Unknown