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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 |
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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 |