Genomics England

FGFR2

fibroblast growth factor receptor 2

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 7.7	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 6.1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes APERT SYNDROME
Green in Common craniosynostosis syndromes R-numbers: R99 Signed-off version 1.2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410, Apert syndrome 101200, Beare-Stevenson cutis gyrata syndrome 123790, Pfeiffer syndrome 101600, Craniofacial-skeletal-dermatologic dysplasia 101600, Crouzon syndrome 123500, Jackson-Weiss syndrome 123150, Saethre-Chotzen syndrome 101400, Scaphocephaly, maxillary retrusion, and mental retardation 609579
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes BEARE-STEVENSON CUTIS GYRATA SYNDROME 123790, ANTLEY-BIXLER SYNDROME 207410, FAMILIAL SCAPHOCEPHALY SYNDROME 609579, JACKSON-WEISS SYNDROME 123150, APERT SYNDROME 101200, CROUZON SYNDROME 123500, LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME 149730, ACROCEPHALOSYNDACTYLY TYPE V 101600
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes BEARE-STEVENSON CUTIS GYRATA SYNDROME, LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, JACKSON-WEISS SYNDROME, ACROCEPHALOSYNDACTYLY TYPE V, FAMILIAL SCAPHOCEPHALY SYNDROME, ANTLEY-BIXLER SYNDROME, CROUZON SYNDROME, APERT SYNDROME
Green in Hydrocephalus R-numbers: R86 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Apert syndrome, OMIM:101200, Crouzon syndrome, OMIM:123500
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 6.14	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410, Apert syndrome 101200, Beare-Stevenson cutis gyrata syndrome 123790, Bent bone dysplasia syndrome 614592, Craniofacial-skeletal-dermatologic dysplasia 101600, Craniosynostosis, nonspecific, Crouzon syndrome 123500, Gastric cancer, somatic 613659, Jackson-Weiss syndrome 123150, LADD syndrome 149730, Pfeiffer syndrome 101600, Saethre-Chotzen syndrome 101400, Scaphocephaly and Axenfeld-Rieger anomaly, Scaphocephaly, maxillary retrusion, and mental retardation 609579
Green in Limb disorders Component of the following Super Panels: - Paediatric disorders Signed-off version 6.2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Polydactyly, LADD syndrome 149730, LADD syndrome, 149730, Craniosynostosis, nonspecific Crouzon syndrome 123500, short radius, Craniofacial-skeletal-dermatologic dysplasia 101600, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410, Gastric cancer, somatic 613659, Beare-Stevenson cutis gyrata syndrome 123790, Jackson-Weiss syndrome 123150, Pfeiffer syndrome 101600, Bent bone dysplasia syndrome 614592, Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs, Apert syndrome 101200
Green in Rare syndromic craniosynostosis or isolated multisuture synostosis R-numbers: R100 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Crouzon syndrome, 123500, Jackson-Weiss syndrome, 123150, Beare-Stevenson cutis gyrata syndrome, 123790, Pfeiffer syndrome, 101600, Apert syndrome, 101200, Saethre-Chotzen, Craniosynostosis, nonspecific syndrome, 101400, Gastric cance, Craniosynostosis
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 6.16	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Beare-Stevenson cutis gyrata syndrome 123790, Craniosynostosis, nonspecific Crouzon syndrome 123500, Craniofacial-skeletal-dermatologic dysplasia 101600, Pfeiffer syndrome 101600, Gastric cancer, somatic 613659, Jackson-Weiss syndrome 123150, LADD syndrome 149730, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410, Apert syndrome 101200, Bent bone dysplasia syndrome 614592