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Ehlers Danlos syndrome with a likely monogenic cause v2.19 COL1A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome, classic type, 130000;Classical EDS (rare);cEDS;Ehlers-Danlos syndrome, type VIIA, 130060;Arthrochalasia EDS;aEDS;Vascular EDS (rare);vEDS
Ehlers Danlos syndrome with a likely monogenic cause v2.19 COL1A1 Ivone Leong Phenotypes for gene: COL1A1 were changed from Ehlers-Danlos syndrome, classic type, 130000; Classical EDS (rare); cEDS; Ehlers-Danlos syndrome, type VIIA, 130060; Arthrochalasia EDS; aEDS; Vascular EDS (rare); vEDS to Ehlers-Danlos syndrome, arthrochalasia type, 1, OMIM:130060; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, OMIM:619115
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL1A1 Duncan Baker reviewed gene: COL1A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL1A1 Eleanor Williams reviewed gene: COL1A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL1A1 Eleanor Williams Source NHS GMS was added to COL1A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause COL1A1 Angela Brady reviewed COL1A1
Ehlers Danlos syndrome with a likely monogenic cause COL1A1 Neeti Ghali reviewed COL1A1
Ehlers Danlos syndrome with a likely monogenic cause COL1A1 Louise Daugherty commented on COL1A1
Ehlers Danlos syndrome with a likely monogenic cause COL1A1 Louise Daugherty commented on COL1A1
Ehlers Danlos syndrome with a likely monogenic cause COL1A1 Louise Daugherty commented on COL1A1