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Ehlers Danlos syndrome with a likely monogenic cause v2.16 CBS Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Homocystinuria, B6-responsive and nonresponsive types, 236200;Homocystinuria Due To Cystathionine Beta‐Synthase Deficiency;Homocystinuria;Thrombosis, hyperhomocysteinemic
Ehlers Danlos syndrome with a likely monogenic cause v2.16 CBS Ivone Leong Phenotypes for gene: CBS were changed from Homocystinuria, B6-responsive and nonresponsive types, 236200; Homocystinuria Due To Cystathionine Beta‐Synthase Deficiency; Homocystinuria; Thrombosis, hyperhomocysteinemic to Homocystinuria, B6-responsive and nonresponsive types, OMIM:236200
Ehlers Danlos syndrome with a likely monogenic cause v1.43 CBS Duncan Baker reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 CBS Eleanor Williams reviewed gene: CBS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.41 CBS Eleanor Williams Source NHS GMS was added to CBS.
Ehlers Danlos syndrome with a likely monogenic cause CBS Angela Brady reviewed CBS
Ehlers Danlos syndrome with a likely monogenic cause CBS Neeti Ghali reviewed CBS
Ehlers Danlos syndrome with a likely monogenic cause CBS Louise Daugherty commented on CBS
Ehlers Danlos syndrome with a likely monogenic cause CBS Louise Daugherty commented on CBS