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Cerebral vascular malformations v0.39 | GUCY1A3 | Sangavi Sivagnanasundram reviewed gene: GUCY1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24581742, 26777256; Phenotypes: Moyamoya disease with early-onset achalasia MONDO:0014331; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral vascular malformations v0.0 | GUCY1A3 |
Zornitza Stark gene: GUCY1A3 was added gene: GUCY1A3 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: GUCY1A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GUCY1A3 were set to 24581742; 26777256 Phenotypes for gene: GUCY1A3 were set to Moyamoya 6 with achalasia; Moyamoya 6 with achalasia, 615750 |