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| Stickler syndrome v2.27 | COL11A2 | Arina Puzriakova commented on gene: COL11A2: The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler syndrome v2.26 | COL11A2 | Arina Puzriakova commented on gene: COL11A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler syndrome v2.25 | COL11A2 | Arina Puzriakova Mode of inheritance for gene COL11A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler syndrome v2.24 | COL11A2 | Arina Puzriakova Phenotypes for gene: COL11A2 were changed from Otospondylomegaepiphyseal dysplasia, autosomal dominant, OMIM:184840 to Otospondylomegaepiphyseal dysplasia, autosomal dominant, OMIM:184840; Otospondylomegaepiphyseal dysplasia, autosomal recessive, OMIM:215150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler syndrome v2.7 | COL11A2 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Stickler Syndrome, Dominant;Stickler syndrome, type III, 184840;Otospondylomegaepiphyseal dysplasia, 215150;Weissenbacher-Zweymuller syndrome, 277610;Deafness, autosomal dominant 13, 601868;Deafness, autosomal recessive 53, 609706;Fibrochondrogenesis 2, 614524 |
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| Stickler syndrome v2.7 | COL11A2 | Ivone Leong Phenotypes for gene: COL11A2 were changed from Stickler Syndrome, Dominant; Stickler syndrome, type III, 184840; Otospondylomegaepiphyseal dysplasia, 215150; Weissenbacher-Zweymuller syndrome, 277610; Deafness, autosomal dominant 13, 601868; Deafness, autosomal recessive 53, 609706; Fibrochondrogenesis 2, 614524 to Otospondylomegaepiphyseal dysplasia, autosomal dominant, OMIM:184840 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||