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 5.3	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 DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950, Encephalocraniocutaneous lipomatosis, OMIM:613001, PFEIFFER SYNDROME, OMIM:101600, OSTEOGLOPHONIC DYSPLASIA, OMIM:166250, Hartsfield syndrome, OMIM:615465
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	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 - NOT chromosomal Component of the following Super Panels: - Cerebral malformation R-numbers: R85 Signed-off version 4.11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Hartsfield syndrome, 615465
Green in Hydrocephalus R-numbers: R86 Signed-off version 4.6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Pfeiffer syndrome, OMIM:101600
Green in Hypogonadotropic hypogonadism (GMS) R-numbers: R148 Signed-off version 3.0	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 5.4	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 2.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Epidermal naevi
Green in Pituitary hormone deficiency R-numbers: R159 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950, Hartsfield syndrome, OMIM:615465, Pfeiffer syndrome, OMIM:101600, Jackson-Weiss syndrome, OMIM:123150
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 Craniosynostosis
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 5.3	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