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Ehlers Danlos syndrome with a likely monogenic cause v2.4 COL2A1 Arina Puzriakova Tag curated_removed tag was added to gene: COL2A1.
Ehlers Danlos syndrome with a likely monogenic cause v1.61 COL2A1 Eleanor Williams Classified gene: COL2A1 as No list
Ehlers Danlos syndrome with a likely monogenic cause v1.61 COL2A1 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 v1.61 COL2A1 Eleanor Williams Gene: col2a1 has been removed from the panel.
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL2A1 Duncan Baker edited their review of gene: COL2A1: Changed phenotypes: Stickler syndrome
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL2A1 Eleanor Williams reviewed gene: COL2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL2A1 Eleanor Williams Source NHS GMS was added to COL2A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.40 COL2A1 Duncan Baker reviewed gene: COL2A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM 120140 Stickler syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ehlers Danlos syndrome with a likely monogenic cause COL2A1 Angela Brady reviewed COL2A1
Ehlers Danlos syndrome with a likely monogenic cause COL2A1 Neeti Ghali reviewed COL2A1
Ehlers Danlos syndrome with a likely monogenic cause COL2A1 Louise Daugherty commented on COL2A1
Ehlers Danlos syndrome with a likely monogenic cause COL2A1 Louise Daugherty commented on COL2A1