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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) |
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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 |