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Ehlers Danlos syndrome with a likely monogenic cause v2.4 COL11A2 Arina Puzriakova Tag curated_removed tag was added to gene: COL11A2.
Ehlers Danlos syndrome with a likely monogenic cause v1.54 COL11A2 Eleanor Williams Classified gene: COL11A2 as No list
Ehlers Danlos syndrome with a likely monogenic cause v1.54 COL11A2 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 v1.54 COL11A2 Eleanor Williams Gene: col11a2 has been removed from the panel.
Ehlers Danlos syndrome with a likely monogenic cause v1.50 COL11A2 Eleanor Williams Phenotypes for gene: COL11A2 were changed from Stickler syndrome, type III, (AD),184840; Otospondylomegaepiphyseal dysplasia,(AR) 215150; Weissenbacher-Zweymuller syndrome, (AD), 277610; Fibrochondrogenesis 2, (AR,AD), 614524; Connective Tissue Disorders to Stickler syndrome, type III, (AD),184840; Otospondylomegaepiphyseal dysplasia,(AR) 215150; Weissenbacher-Zweymuller syndrome, (AD), 277610; Fibrochondrogenesis 2, (AR,AD), 614524; Connective Tissue Disorders; autosomal dominant otospondylomegaepiphyseal dysplasia OMIM 184840; autosomal recessive otospondylomegaepiphyseal dysplasia OMIM 215150
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL11A2 Duncan Baker edited their review of gene: COL11A2: Changed phenotypes: autosomal dominant otospondylomegaepiphyseal dysplasia OMIM 184840, autosomal recessive otospondylomegaepiphyseal dysplasia OMIM 215150
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL11A2 Eleanor Williams reviewed gene: COL11A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL11A2 Eleanor Williams Source NHS GMS was added to COL11A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.40 COL11A2 Duncan Baker reviewed gene: COL11A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM 184840 autosomal dominant otospondylomegaepiphyseal dysplasia, OMIM 215150 utosomal recessive otospondylomegaepiphyseal dysplasia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ehlers Danlos syndrome with a likely monogenic cause COL11A2 Angela Brady reviewed COL11A2
Ehlers Danlos syndrome with a likely monogenic cause COL11A2 Neeti Ghali reviewed COL11A2
Ehlers Danlos syndrome with a likely monogenic cause COL11A2 Louise Daugherty commented on COL11A2
Ehlers Danlos syndrome with a likely monogenic cause COL11A2 Louise Daugherty commented on COL11A2
Ehlers Danlos syndrome with a likely monogenic cause COL11A2 Louise Daugherty commented on COL11A2