Genomics England

COL9A1

collagen type IX alpha 1 chain

OMIM: 120210

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 6.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Stickler syndrome, type IV, OMIM:614134
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes STICKLER SYNDROME TYPE 4 614134, MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6 614135
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes STICKLER SYNDROME TYPE 4, MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6
Green in Monogenic hearing loss Component of the following Super Panels: - Paediatric disorders R-numbers: R67 Signed-off version 4.51	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Stickler syndrome, type IV, OMIM:614134, Hearing loss
Green in Retinal disorders R-numbers: R32 Signed-off version 6.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Stickler syndrome, type IV, OMIM:614134
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 6.16	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Stickler syndrome, type IV, OMIM:614134, Epiphyseal dysplasia, multiple, 6, OMIM:614135
Green in Stickler syndrome R-numbers: R45 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Stickler syndrome, type IV, OMIM:614134