Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Ehlers Danlos syndrome with a likely monogenic cause v2.23 COL5A2 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 v2.23 COL5A2 Ivone Leong Phenotypes for gene: COL5A2 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, 2, OMIM:130010
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL5A2 Duncan Baker reviewed gene: COL5A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL5A2 Eleanor Williams reviewed gene: COL5A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL5A2 Eleanor Williams Source NHS GMS was added to COL5A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause COL5A2 Angela Brady reviewed COL5A2
Ehlers Danlos syndrome with a likely monogenic cause COL5A2 Neeti Ghali reviewed COL5A2
Ehlers Danlos syndrome with a likely monogenic cause COL5A2 Louise Daugherty commented on COL5A2
Ehlers Danlos syndrome with a likely monogenic cause COL5A2 Louise Daugherty edited their review of COL5A2
Ehlers Danlos syndrome with a likely monogenic cause COL5A2 Louise Daugherty commented on COL5A2