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Ehlers Danlos syndrome with a likely monogenic cause v2.4 COL11A1 Arina Puzriakova Tag curated_removed tag was added to gene: COL11A1.
Ehlers Danlos syndrome with a likely monogenic cause v1.53 COL11A1 Eleanor Williams Classified gene: COL11A1 as No list
Ehlers Danlos syndrome with a likely monogenic cause v1.53 COL11A1 Eleanor Williams Added comment: Comment on list classification: Following discussion in the GMS musculoskeletal specialist test group Webex on 2019-06-04, it was decided to remove the genes associated with Stickler syndrome from this panel. These genes are better covered by other panels.
Ehlers Danlos syndrome with a likely monogenic cause v1.53 COL11A1 Eleanor Williams Gene: col11a1 has been removed from the panel.
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL11A1 Duncan Baker edited their review of gene: COL11A1: Changed phenotypes: Marshal syndrome, Stickler syndrome, type II 604841
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL11A1 Eleanor Williams reviewed gene: COL11A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL11A1 Eleanor Williams Source NHS GMS was added to COL11A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.40 COL11A1 Duncan Baker reviewed gene: COL11A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: omim 145780 Marshal syndrome, OMIM 604841 Stickler syndrom II; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ehlers Danlos syndrome with a likely monogenic cause COL11A1 Angela Brady reviewed COL11A1
Ehlers Danlos syndrome with a likely monogenic cause COL11A1 Neeti Ghali reviewed COL11A1
Ehlers Danlos syndrome with a likely monogenic cause COL11A1 Louise Daugherty edited their review of COL11A1
Ehlers Danlos syndrome with a likely monogenic cause COL11A1 Louise Daugherty classified COL11A1 as green
Ehlers Danlos syndrome with a likely monogenic cause COL11A1 Louise Daugherty commented on COL11A1