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Ehlers Danlos syndrome with a likely monogenic cause v3.3 COL12A1 Sarah Leigh Publications for gene: COL12A1 were set to 28306229; 28306225; 24334769; 24334604; 27348394
Ehlers Danlos syndrome with a likely monogenic cause v3.2 COL12A1 Sarah Leigh reviewed gene: COL12A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35019233; Phenotypes: ; Mode of inheritance: None
Ehlers Danlos syndrome with a likely monogenic cause v3.2 COL12A1 Sarah Leigh Phenotypes for gene: COL12A1 were changed from Bethlem myopathy 2, OMIM:616471 to Bethlem myopathy 2, OMIM:616471; Bethlem myopathy 2, MONDO:0034022
Ehlers Danlos syndrome with a likely monogenic cause v2.18 COL12A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Myopathic EDS;mEDS;EDS/Myopathy overlap syndrome;Ehlers-Danlos syndrome, Myopathic type
Ehlers Danlos syndrome with a likely monogenic cause v2.18 COL12A1 Ivone Leong Phenotypes for gene: COL12A1 were changed from Myopathic EDS; mEDS; EDS/Myopathy overlap syndrome; Ehlers-Danlos syndrome, Myopathic type to Bethlem myopathy 2, OMIM:616471
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL12A1 Duncan Baker reviewed gene: COL12A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL12A1 Eleanor Williams reviewed gene: COL12A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL12A1 Eleanor Williams Source NHS GMS was added to COL12A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Angela Brady reviewed COL12A1
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Neeti Ghali reviewed COL12A1
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty classified COL12A1 as green
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty commented on COL12A1
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty classified COL12A1 as amber
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty edited their review of COL12A1
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty commented on COL12A1
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty commented on COL12A1
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty commented on COL12A1
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty reviewed COL12A1
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty classified COL12A1 as amber
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty classified COL12A1 as green
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty edited their review of COL12A1
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty edited their review of COL12A1
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty added COL12A1 to panel
Ehlers Danlos syndrome with a likely monogenic cause COL12A1 Louise Daugherty reviewed COL12A1