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Ehlers Danlos syndrome with a likely monogenic cause v2.39 PYCR1 Ivone Leong Phenotypes for gene: PYCR1 were changed from Cutis laxa, autosomal recessive, type IIIB, 614438; Cutis laxa, autosomal recessive, type IIB, 612940 to Cutis laxa, autosomal recessive, type IIIB, OMIM:614438; Cutis laxa, autosomal recessive, type IIB, OMIM:612940
Ehlers Danlos syndrome with a likely monogenic cause v1.43 PYCR1 Duncan Baker reviewed gene: PYCR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 PYCR1 Eleanor Williams reviewed gene: PYCR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.41 PYCR1 Eleanor Williams Source NHS GMS was added to PYCR1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause PYCR1 Angela Brady reviewed PYCR1
Ehlers Danlos syndrome with a likely monogenic cause PYCR1 Neeti Ghali reviewed PYCR1
Ehlers Danlos syndrome with a likely monogenic cause PYCR1 Louise Daugherty edited their review of PYCR1
Ehlers Danlos syndrome with a likely monogenic cause PYCR1 Louise Daugherty classified PYCR1 as green
Ehlers Danlos syndrome with a likely monogenic cause PYCR1 Louise Daugherty commented on PYCR1