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Ehlers Danlos syndrome with a likely monogenic cause v2.65 COL1A2 Eleanor Williams Added comment: Comment on mode of inheritance: The mode of inheritance for Ehlers-Danlos syndrome, arthrochalasia type, 2, OMIM:617821 is monoallelic, but for Ehlers-Danlos syndrome, cardiac valvular type, OMIM:225320 it is biallelic, so it is correct that the mode of inheritance on this panel is BOTH mono- and bi-allelic.
Ehlers Danlos syndrome with a likely monogenic cause v2.65 COL1A2 Eleanor Williams Mode of inheritance for gene: COL1A2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ehlers Danlos syndrome with a likely monogenic cause v2.20 COL1A2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers Danlos syndrome, type VIIB (AD), 130060;Ehlers-Danlos Syndrome, Arthrochalasia Type;Arthrochalasia EDS;aEDS;Ehlers Danlos syndrome, cardiac valvular form (AR), 225320;Cardiac-valvular EDS;cvEDS
Ehlers Danlos syndrome with a likely monogenic cause v2.20 COL1A2 Ivone Leong Phenotypes for gene: COL1A2 were changed from Ehlers Danlos syndrome, type VIIB (AD), 130060; Ehlers-Danlos Syndrome, Arthrochalasia Type; Arthrochalasia EDS; aEDS; Ehlers Danlos syndrome, cardiac valvular form (AR), 225320; Cardiac-valvular EDS; cvEDS to Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, OMIM:619120; Ehlers-Danlos syndrome, arthrochalasia type, 2, OMIM:617821; Ehlers-Danlos syndrome, cardiac valvular type, OMIM:225320
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL1A2 Duncan Baker reviewed gene: COL1A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL1A2 Eleanor Williams reviewed gene: COL1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL1A2 Eleanor Williams Source NHS GMS was added to COL1A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause COL1A2 Angela Brady reviewed COL1A2
Ehlers Danlos syndrome with a likely monogenic cause COL1A2 Neeti Ghali reviewed COL1A2
Ehlers Danlos syndrome with a likely monogenic cause COL1A2 Louise Daugherty commented on COL1A2
Ehlers Danlos syndrome with a likely monogenic cause COL1A2 Louise Daugherty commented on COL1A2