Genomics England

FGFR1

fibroblast growth factor receptor 1

Panel	Mode of inheritance	Details
Filter panels12 panels
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 2.2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Hartsfield syndrome, 615465, Hypogonadotropic hypogonadism 2 with or without anosmia, 147950, Kallmann syndrome 2
Green in Common craniosynostosis syndromes R-numbers: R99 Signed-off version 1.2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Jackson-Weiss syndrome, Osteoglophonic dysplasia, Pfeiffer syndrome
Green in Craniosynostosis R-numbers: R100 Signed-off version 2.2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes 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 PFEIFFER SYNDROME 101600, OSTEOGLOPHONIC DYSPLASIA 166250, Hartsfield syndrome 615465, KALLMANN SYNDROME TYPE 2 147950, IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM 146110, Encephalocraniocutaneous lipomatosis 613001
Green in Fetal anomalies R-numbers: R21 Signed-off version 1.92	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM, OSTEOGLOPHONIC DYSPLASIA, PFEIFFER SYNDROME, KALLMANN SYNDROME TYPE 2, Hartsfield syndrome, Encephalocraniocutaneous lipomatosis
Green in Holoprosencephaly Component of the following Super Panels: - Cerebral malformations R-numbers: R85 Signed-off version 2.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Hartsfield syndrome, 615465
Green in Hydrocephalus R-numbers: R86 Signed-off version 2.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Pfeiffer syndrome 101600
Green in Hypogonadotropic hypogonadism idiopathic R-numbers: R148 Signed-off version 1.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hypogonadotropic hypogonadism type 2(OMIM 147950)
Green in Limb disorders Component of the following Super Panels: - Paediatric disorders Signed-off version 2.2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Encephalocraniocutaneous lipomatosis, somatic mosaism, 613001, Hartsfield syndrome, 615465, Hypogonadotropic hypogonadism 2 with or without anosmia, 147950, Jackson-Weiss syndrome, 123150, Osteoglophonic dysplasia, 166250, Pfeiffer syndrome,101600, Trigonocephaly 1,190440, Polydactyly
Green in Mosaic skin disorders - deep sequencing R-numbers: R327 Signed-off version 1.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Epidermal naevi
Green in Pituitary hormone deficiency R-numbers: R159 Signed-off version 2.2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Hypogonadotropic hypogonadism 2 with or without anosmia (147950), Hartsfield syndrome (615465), Pfeiffer syndrome (101600), Jackson-Weiss syndrome (123150)
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 2.2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Hypogonadotropic hypogonadism 2 with or without anosmia 147950, Encephalocraniocutaneous lipomatosis, somatic mosaism 613001, Pfeiffer syndrome 101600, Trigonocephaly 1 190440, Hartsfield syndrome 615465, Jackson-Weiss syndrome 123150, Osteoglophonic dysplasia 166250