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Ehlers Danlos syndrome with a likely monogenic cause v2.17 CHST14 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers Danlos syndrome, musculocontractural type 1, 601776;EDSMC1;Musculocontractural EDS;mcEDS-CHST14;Adducted thumb-club foot syndrome (ATCS);EDS Kosho type (EDS-KT);D4ST1-deficient EDS
Ehlers Danlos syndrome with a likely monogenic cause v2.17 CHST14 Ivone Leong Phenotypes for gene: CHST14 were changed from Ehlers Danlos syndrome, musculocontractural type 1, 601776; EDSMC1; Musculocontractural EDS; mcEDS-CHST14; Adducted thumb-club foot syndrome (ATCS); EDS Kosho type (EDS-KT); D4ST1-deficient EDS to Ehlers-Danlos syndrome, musculocontractural type 1, OMIM:601776
Ehlers Danlos syndrome with a likely monogenic cause v1.43 CHST14 Duncan Baker reviewed gene: CHST14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 CHST14 Eleanor Williams reviewed gene: CHST14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.41 CHST14 Eleanor Williams Source NHS GMS was added to CHST14.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause CHST14 Angela Brady reviewed CHST14
Ehlers Danlos syndrome with a likely monogenic cause CHST14 Neeti Ghali reviewed CHST14
Ehlers Danlos syndrome with a likely monogenic cause CHST14 Louise Daugherty commented on CHST14
Ehlers Danlos syndrome with a likely monogenic cause CHST14 Louise Daugherty commented on CHST14
Ehlers Danlos syndrome with a likely monogenic cause CHST14 Louise Daugherty commented on CHST14
Ehlers Danlos syndrome with a likely monogenic cause CHST14 Louise Daugherty edited their review of CHST14
Ehlers Danlos syndrome with a likely monogenic cause CHST14 Louise Daugherty commented on CHST14