FGFR1

fibroblast growth factor receptor 1
OMIM: 136350, Gene2Phenotype

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Green FGFR1 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.36

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature

Green FGFR1 in Hydrocephalus


Version 2.116
Latest signed off version: v2.3 (2 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Pfeiffer syndrome, OMIM:101600

Red FGFR1 in Hypophosphataemia or rickets


Version 2.14
Latest signed off version: v2.2 (3 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Osteoglophonic dysplasia (166250)
  • Hypophosphatemia

Green FGFR1 in Pituitary hormone deficiency


Version 2.7
Latest signed off version: v2.2 (3 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center
  • Emory Genetics Laboratory
Phenotypes
  • Hypogonadotropic hypogonadism 2 with or without anosmia (147950)
  • Hartsfield syndrome (615465)
  • Pfeiffer syndrome (101600)
  • Jackson-Weiss syndrome (123150)

Green FGFR1 in Limb disorders


Version 2.57
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Emory Genetics Laboratory
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert Review Green
    • London South East RGC GSTT
    • Viapath
    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 FGFR1 in Hypogonadotropic hypogonadism

    Level 3: Hypothalamic and pituitary disorders
    Level 2: Endocrine disorders
    Version 1.33

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    • OMIM
    Phenotypes
    • Hypogonadotropic hypogonadism 2 with or without anosmia, 147950
    • Beare-Stevenson Cutis Gyrata Syndrome, 123790
    • Crouzon Syndrome, 123500
    • Pfeiffer Syndrome, 101600
    • Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel (Emory)
    • Pfeiffer syndrome, 101600
    • Jackson-Weiss syndrome, 123150
    • Osteoglophonic dysplasia, 166250
    • Trigonocephaly 1, 190440
    • Hartsfield syndrome, 615465
    • Nonsyndromic Trigonocephaly
    Tags
    • monogenic-polygenic

    Green FGFR1 in Hypogonadotropic hypogonadism idiopathic


    Version 1.44
    Latest signed off version: v1.4 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Wessex and West Midlands GLH
    • NHS GMS
    • South West GLH
    Phenotypes
    • Hypogonadotropic hypogonadism type 2(OMIM 147950)

    Green FGFR1 in Mosaic skin disorders - deep sequencing


    Version 1.5
    Latest signed off version: v1.3 (15 Oct 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Epidermal naevi

    Green FGFR1 in Common craniosynostosis syndromes


    Version 1.13
    Latest signed off version: v1.2 (13 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert list
    • Expert Review Green
    Phenotypes
    • Jackson-Weiss syndrome OMIM:123150
    • Osteoglophonic dysplasia OMIM:166250
    • Pfeiffer syndrome OMIM:101600
    • Trigonocephaly 1 OMIM:190440

    Green FGFR1 in Holoprosencephaly

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.23
    Latest signed off version: v2.3 (27 Feb 2020)

    Component of the following Super Panels:

  • Cerebral malformations
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Hartsfield syndrome, 615465

    Green FGFR1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.126
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Emory Genetics Laboratory
    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

    Green FGFR1 in Fetal anomalies


    Version 1.717
    Latest signed off version: v1.92 (21 Aug 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM
    • OSTEOGLOPHONIC DYSPLASIA
    • PFEIFFER SYNDROME
    • KALLMANN SYNDROME TYPE 2
    • Hartsfield syndrome
    • Encephalocraniocutaneous lipomatosis
    Tags
    • mosaicism

    Green FGFR1 in Craniosynostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 2.53
    Latest signed off version: v2.2 (13 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Craniosynostosis

    No list FGFR1 in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.37
    Latest signed off version: v2.2 (13 Feb 2020)

    review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Disproportionate Short Stature
    Tags
    • curated_removed

    Green FGFR1 in DDG2P


    Version 2.46
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PFEIFFER SYNDROME 101600
    • OSTEOGLOPHONIC DYSPLASIA 166250
    • Hartsfield syndrome 615465
    • KALLMANN SYNDROME TYPE 2 147950
    • IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM 146110
    • Encephalocraniocutaneous lipomatosis 613001
    Tags
    • mosaicism

    Red FGFR1 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.185
    Latest signed off version: v2.5 (13 Feb 2020)

    review Not set
    Sources
    • Expert

    Green FGFR1 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.49
    Latest signed off version: v2.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Hartsfield syndrome, 615465
    • Hypogonadotropic hypogonadism 2 with or without anosmia, 147950
    • Kallmann syndrome 2

    Red FGFR1 in Growth failure in early childhood


    Version 1.71
    Latest signed off version: v1.4 (3 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red

    Red FGFR1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1306
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Red
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Hartsfield syndrome, OMIM:615465
    • Pfeiffer syndrome, OMIM:101600
    • Encephalocraniocutaneous lipomatosis, somatic mosaic, OMIM:613001

    Green FGFR1 in Severe Paediatric Disorders


    Version 1.84

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Pfeiffer syndrome, 101600
    • Osteoglophonic dysplasia, 166250
    • Hypogonadotropic hypogonadism 2 with or without anosmia, 147950
    • Hartsfield syndrome, 615465
    • Jackson-Weiss syndrome, 123150
    • Trigonocephaly 1, 190440