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Ehlers Danlos syndrome with a likely monogenic cause v2.43 SLC39A13 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350;Spondylodysplastic EDS;spEDS-SLC39A13;Ehlers-Danlos Syndrome, Spondylodysplastic Type
Ehlers Danlos syndrome with a likely monogenic cause v2.43 SLC39A13 Ivone Leong Phenotypes for gene: SLC39A13 were changed from Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350; Spondylodysplastic EDS; spEDS-SLC39A13; Ehlers-Danlos Syndrome, Spondylodysplastic Type to Ehlers-Danlos syndrome, spondylodysplastic type, 3, OMIM:612350
Ehlers Danlos syndrome with a likely monogenic cause v1.43 SLC39A13 Duncan Baker reviewed gene: SLC39A13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 SLC39A13 Eleanor Williams reviewed gene: SLC39A13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.41 SLC39A13 Eleanor Williams Source NHS GMS was added to SLC39A13.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause SLC39A13 Angela Brady reviewed SLC39A13
Ehlers Danlos syndrome with a likely monogenic cause SLC39A13 Neeti Ghali reviewed SLC39A13
Ehlers Danlos syndrome with a likely monogenic cause SLC39A13 Louise Daugherty commented on SLC39A13
Ehlers Danlos syndrome with a likely monogenic cause SLC39A13 Louise Daugherty edited their review of SLC39A13
Ehlers Danlos syndrome with a likely monogenic cause SLC39A13 Louise Daugherty commented on SLC39A13