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Ehlers Danlos syndrome with a likely monogenic cause v2.37 PLOD1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos Syndrome, Kyphoscoliotic Form;Ehlers Danlos syndrome, type VI, 225400;Kyphoscoliotic EDS;kEDS-PLOD1;Ocular-Scoliotic EDS
Ehlers Danlos syndrome with a likely monogenic cause v2.37 PLOD1 Ivone Leong Phenotypes for gene: PLOD1 were changed from Ehlers-Danlos Syndrome, Kyphoscoliotic Form; Ehlers Danlos syndrome, type VI, 225400; Kyphoscoliotic EDS; kEDS-PLOD1; Ocular-Scoliotic EDS to Ehlers-Danlos syndrome, kyphoscoliotic type, 1, OMIM:225400
Ehlers Danlos syndrome with a likely monogenic cause v1.43 PLOD1 Duncan Baker reviewed gene: PLOD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 PLOD1 Eleanor Williams reviewed gene: PLOD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.41 PLOD1 Eleanor Williams Source NHS GMS was added to PLOD1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause PLOD1 Angela Brady reviewed PLOD1
Ehlers Danlos syndrome with a likely monogenic cause PLOD1 Neeti Ghali reviewed PLOD1
Ehlers Danlos syndrome with a likely monogenic cause PLOD1 Louise Daugherty commented on PLOD1
Ehlers Danlos syndrome with a likely monogenic cause PLOD1 Louise Daugherty commented on PLOD1
Ehlers Danlos syndrome with a likely monogenic cause PLOD1 Louise Daugherty commented on PLOD1
Ehlers Danlos syndrome with a likely monogenic cause PLOD1 Louise Daugherty commented on PLOD1