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Ehlers Danlos syndrome with a likely monogenic cause v2.11 B3GALT6 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers Danlos syndrome, progeroid type, 2, 615349;Spondylodysplastic EDS;spEDS-B3GALT6;Progeroid EDS;Spondylodysplastic EDS due to B3GALT6-deficiency;EDS progeroid type 2;EDS B3GALT6
Ehlers Danlos syndrome with a likely monogenic cause v2.11 B3GALT6 Ivone Leong Phenotypes for gene: B3GALT6 were changed from Ehlers Danlos syndrome, progeroid type, 2, 615349; Spondylodysplastic EDS; spEDS-B3GALT6; Progeroid EDS; Spondylodysplastic EDS due to B3GALT6-deficiency; EDS progeroid type 2; EDS B3GALT6 to Ehlers-Danlos syndrome, spondylodysplastic type, 2, OMIM:615349; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, OMIM:271640
Ehlers Danlos syndrome with a likely monogenic cause v1.43 B3GALT6 Duncan Baker reviewed gene: B3GALT6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 B3GALT6 Eleanor Williams reviewed gene: B3GALT6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.41 B3GALT6 Eleanor Williams Source NHS GMS was added to B3GALT6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause B3GALT6 Angela Brady reviewed B3GALT6
Ehlers Danlos syndrome with a likely monogenic cause B3GALT6 Neeti Ghali reviewed B3GALT6
Ehlers Danlos syndrome with a likely monogenic cause B3GALT6 Louise Daugherty commented on B3GALT6
Ehlers Danlos syndrome with a likely monogenic cause B3GALT6 Louise Daugherty commented on B3GALT6
Ehlers Danlos syndrome with a likely monogenic cause B3GALT6 Louise Daugherty edited their review of B3GALT6
Ehlers Danlos syndrome with a likely monogenic cause B3GALT6 Louise Daugherty classified B3GALT6 as green
Ehlers Danlos syndrome with a likely monogenic cause B3GALT6 Louise Daugherty commented on B3GALT6
Ehlers Danlos syndrome with a likely monogenic cause B3GALT6 Raymond Dalgleish reviewed B3GALT6