Activity

Filter

Cancel
Date Panel Item Activity
15 actions
Ehlers Danlos syndrome with a likely monogenic cause v2.4 COL9A3 Arina Puzriakova Tag curated_removed tag was added to gene: COL9A3.
Ehlers Danlos syndrome with a likely monogenic cause v1.57 COL9A3 Eleanor Williams Classified gene: COL9A3 as No list
Ehlers Danlos syndrome with a likely monogenic cause v1.57 COL9A3 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 v1.57 COL9A3 Eleanor Williams Gene: col9a3 has been removed from the panel.
Ehlers Danlos syndrome with a likely monogenic cause v1.49 COL9A3 Eleanor Williams Phenotypes for gene: COL9A3 were changed from Stickler syndrome VI; Connective Tissue Disorders; Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 to Stickler syndrome VI; Connective Tissue Disorders; Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969; Multiple epiphyseal dysplasia
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL9A3 Duncan Baker edited their review of gene: COL9A3: Changed phenotypes: Epiphyseal dysplasia, multiple, 3, with or without myopathy 600969, Multiple epiphyseal dysplasia; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL9A3 Eleanor Williams reviewed gene: COL9A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL9A3 Eleanor Williams Source NHS GMS was added to COL9A3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.40 COL9A3 Duncan Baker reviewed gene: COL9A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple epiphyseal dysplasia; Mode of inheritance: None
Ehlers Danlos syndrome with a likely monogenic cause COL9A3 Angela Brady reviewed COL9A3
Ehlers Danlos syndrome with a likely monogenic cause COL9A3 Neeti Ghali reviewed COL9A3
Ehlers Danlos syndrome with a likely monogenic cause COL9A3 Louise Daugherty commented on COL9A3
Ehlers Danlos syndrome with a likely monogenic cause COL9A3 Louise Daugherty classified COL9A3 as green
Ehlers Danlos syndrome with a likely monogenic cause COL9A3 Louise Daugherty edited their review of COL9A3
Ehlers Danlos syndrome with a likely monogenic cause COL9A3 Louise Daugherty commented on COL9A3