Genomics England

FGFR3

fibroblast growth factor receptor 3

Panel	Mode of inheritance	Details
Filter panels12 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 6.3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes CATSHL syndrome 610474
Green in Common craniosynostosis syndromes R-numbers: R99 Signed-off version 1.2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Muenke syndrome 602849, Crouzon syndrome with acanthosis nigricans 612247, Thanatophoric dysplasia, type I 187600, Thanatophoric dysplasia, type II 187601
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes THANATOPHORIC DYSPLASIA TYPE 2 187601, THANATOPHORIC DYSPLASIA TYPE 1 187600, MUENKE SYNDROME 602849, ACHONDROPLASIA 100800, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS 612247, CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME 610474, LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME 149730, HYPOCHONDROPLASIA 146000
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 5.10	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Hypochondroplasia, OMIM:146000, hypochondroplasia, MONDO:0007793
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, MUENKE SYNDROME, ACHONDROPLASIA, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME, HYPOCHONDROPLASIA, THANATOPHORIC DYSPLASIA TYPE 2, THANATOPHORIC DYSPLASIA TYPE 1
Green in Hydrocephalus R-numbers: R86 Signed-off version 4.6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Achondroplasia, OMIM:100800, Thanatophoric dysplasia, OMIM:187600, Crouzon syndrome with acanthosis nigricans, OMIM:612247, Muenke syndrome, OMIM:602849
Green in Limb disorders Component of the following Super Panels: - Paediatric disorders Signed-off version 5.4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Thanatophoric dysplasia, type II 187601, Polydactyly, LADD syndrome 149730, LADD syndrome, 149730, short radius, Achondroplasia 100800, SADDAN 616482, Thanatophoric dysplasia, type I 187600, Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs, Hypochondroplasia 146000, CATSHL syndrome 610474, Crouzon syndrome with acanthosis nigricans 612247, Muenke syndrome 602849
Green in Monogenic short stature R-numbers: R453 Signed-off version 1.1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Hypochondroplasia, OMIM:146000, Crouzon syndrome with acanthosis nigricans, OMIM:612247, Thanatophoric dysplasia, type I, OMIM:187600, Thanatophoric dysplasia, type II, OMIM:187601
Green in Mosaic skin disorders - deep sequencing R-numbers: R327 Signed-off version 2.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Syringocystadenoma papilliferum, Epidermal naevi
Green in Rare syndromic craniosynostosis or isolated multisuture synostosis R-numbers: R100 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Muenke syndrome, Crouzon syndrome with acanthosis nigricans
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 5.3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Thanatophoric dysplasia, type I 187600, Muenke syndrome 602849, CATSHL syndrome 610474, SADDAN 616482, Thanatophoric dysplasia, type II 187601, Achondroplasia 100800, LADD syndrome 149730, Hypochondroplasia 146000, Crouzon syndrome with acanthosis nigricans 612247
Green in Thanatophoric dysplasia R-numbers: R25 Signed-off version 1.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes