Genomics England

COL11A2

collagen type XI alpha 2 chain

OMIM: 120290

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 6.3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Stickler syndrome, type III, STICKLER SYNDROME, NONOCULAR TYPE, OSMED, STL3, Non-ocular Stickler syndrome, Cleft palate
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes WEISSENBACHER-ZWEYMUELLER SYNDROME 184840, AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA 215150, DEAFNESS AUTOSOMAL DOMINANT TYPE 13 601868, STICKLER SYNDROME TYPE 3 184840, DEAFNESS AUTOSOMAL RECESSIVE TYPE 53 609706
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes WEISSENBACHER-ZWEYMUELLER SYNDROME, DEAFNESS AUTOSOMAL RECESSIVE TYPE 53, AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, DEAFNESS AUTOSOMAL DOMINANT TYPE 13, STICKLER SYNDROME TYPE 3
Green in Monogenic hearing loss Component of the following Super Panels: - Paediatric disorders R-numbers: R67 Signed-off version 4.57	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes hearing loss, #184840:Stickler syndrome, type III, #215150:Otospondylomegaepiphyseal dysplasia, #277610:Weissenbacher-Zweymuller syndrome, #601868:Deafness, autosomal dominant 13, #609706:Deafness, autosomal recessive 53, #614524: Fibrochondrogenesis 2, Nonsyndromic Hearing Loss, Dominant
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 7.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Stickler syndrome, type III 184840, Otospondylomegaepiphyseal dysplasia 215150, Fibrochondrogenesis 2 614524?, Fibrochondrogenesis 2 614524, Weissenbacher-Zweymuller syndrome 277610
Green in Stickler syndrome R-numbers: R45 Signed-off version 4.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Otospondylomegaepiphyseal dysplasia, autosomal dominant, OMIM:184840, Otospondylomegaepiphyseal dysplasia, autosomal recessive, OMIM:215150