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| Leukodystrophy - adult onset v0.109 | COL4A1 | Kaitlyn Dianna Weldon reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301768; Phenotypes: brain small vessel disease 1 with or without ocular anomalies MONDO:0008289; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.0 | COL4A1 |
Bryony Thompson gene: COL4A1 was added gene: COL4A1 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL4A1 were set to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773; Brain small vessel disease with or without ocular anomalies, 175780 |
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