FGFR2

fibroblast growth factor receptor 2
OMIM: 176943
PanelMode of inheritanceDetails
10 panels
R-numbers: R83
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
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 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
APERT SYNDROME
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
R-numbers: R100
Signed-off version 2.2
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 DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
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
R-numbers: R21
Signed-off version 1.92
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 2.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Apert syndrome, Crouzon syndrome
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
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
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
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
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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