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Ehlers Danlos syndrome with a likely monogenic cause v2.69 COL5A1 Achchuthan Shanmugasundram Publications for gene: COL5A1 were set to 28306229; 28192633; 22696272; 15264295; 9042913
Ehlers Danlos syndrome with a likely monogenic cause v2.22 COL5A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome, classic type, 130000;Classical EDS;cEDS;Ehlers-Danlos syndrome vascular type I;Ehlers-Danlos syndrome type II;Ehlers-Danlos syndrome, Gravis type;Ehlers-Danlos syndrome, Mitis type
Ehlers Danlos syndrome with a likely monogenic cause v2.22 COL5A1 Ivone Leong Phenotypes for gene: COL5A1 were changed from Ehlers-Danlos syndrome, classic type, 130000; Classical EDS; cEDS; Ehlers-Danlos syndrome vascular type I; Ehlers-Danlos syndrome type II; Ehlers-Danlos syndrome, Gravis type; Ehlers-Danlos syndrome, Mitis type to Ehlers-Danlos syndrome, classic type, 1, OMIM:130000
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL5A1 Duncan Baker reviewed gene: COL5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL5A1 Eleanor Williams reviewed gene: COL5A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL5A1 Eleanor Williams Source NHS GMS was added to COL5A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause COL5A1 Angela Brady reviewed COL5A1
Ehlers Danlos syndrome with a likely monogenic cause COL5A1 Neeti Ghali reviewed COL5A1
Ehlers Danlos syndrome with a likely monogenic cause COL5A1 Louise Daugherty commented on COL5A1
Ehlers Danlos syndrome with a likely monogenic cause COL5A1 Louise Daugherty edited their review of COL5A1
Ehlers Danlos syndrome with a likely monogenic cause COL5A1 Louise Daugherty commented on COL5A1