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Ehlers Danlos syndrome with a likely monogenic cause v2.12 B4GALT7 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome with short stature and limb anomalies, 130070;Spondylodysplastic EDS;spEDS-B4GALT7;Progeroid EDS;Spondylodysplastic EDS due to B4GALT7-deficiency;EDS progeroid type;Ehlers Danlos syndrome, progeroid type 1
Ehlers Danlos syndrome with a likely monogenic cause v2.12 B4GALT7 Ivone Leong Phenotypes for gene: B4GALT7 were changed from Ehlers-Danlos syndrome with short stature and limb anomalies, 130070; Spondylodysplastic EDS; spEDS-B4GALT7; Progeroid EDS; Spondylodysplastic EDS due to B4GALT7-deficiency; EDS progeroid type; Ehlers Danlos syndrome, progeroid type 1 to Ehlers-Danlos syndrome, spondylodysplastic type, 1, OMIM:130070
Ehlers Danlos syndrome with a likely monogenic cause v1.43 B4GALT7 Duncan Baker reviewed gene: B4GALT7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 B4GALT7 Eleanor Williams reviewed gene: B4GALT7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.41 B4GALT7 Eleanor Williams Source NHS GMS was added to B4GALT7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause B4GALT7 Angela Brady reviewed B4GALT7
Ehlers Danlos syndrome with a likely monogenic cause B4GALT7 Neeti Ghali reviewed B4GALT7
Ehlers Danlos syndrome with a likely monogenic cause B4GALT7 Louise Daugherty commented on B4GALT7
Ehlers Danlos syndrome with a likely monogenic cause B4GALT7 Louise Daugherty commented on B4GALT7
Ehlers Danlos syndrome with a likely monogenic cause B4GALT7 Louise Daugherty classified B4GALT7 as green
Ehlers Danlos syndrome with a likely monogenic cause B4GALT7 Louise Daugherty edited their review of B4GALT7
Ehlers Danlos syndrome with a likely monogenic cause B4GALT7 Louise Daugherty commented on B4GALT7
Ehlers Danlos syndrome with a likely monogenic cause B4GALT7 Raymond Dalgleish reviewed B4GALT7