FGFR1

fibroblast growth factor receptor 1
OMIM: 136350
PanelMode of inheritanceDetails
12 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
R-numbers: R99
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Jackson-Weiss syndrome, Osteoglophonic dysplasia, Pfeiffer syndrome
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
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
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
R-numbers: R148
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypogonadotropic hypogonadism type 2(OMIM 147950)
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
R-numbers: R327
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epidermal naevi
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)
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