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 1.69

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Green FGFR1 in Hydrocephalus


Version 4.6
Latest signed off version: v4.0 (22 Mar 2023)

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 3.4
Latest signed off version: v3.0 (30 Nov 2022)

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 3.12
Latest signed off version: v3.0 (22 Mar 2023)

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, OMIM:147950
  • Hartsfield syndrome, OMIM:615465
  • Pfeiffer syndrome, OMIM:101600
  • Jackson-Weiss syndrome, OMIM:123150
Green FGFR1 in Limb disorders


Version 5.4
Latest signed off version: v5.0 (1 May 2024)

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 1.41

    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 (GMS)


    Version 3.18
    Latest signed off version: v3.0 (22 Mar 2023)

    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 2.47
    Latest signed off version: v2.0 (30 Nov 2022)

    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 1.15
    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 - NOT chromosomal

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.9
    Latest signed off version: v4.4 (1 May 2024)

    Component of the following Super Panels:

  • Cerebral malformation
  • 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 5.6
    Latest signed off version: v5.0 (1 May 2024)

    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 4.3
    Latest signed off version: v4.0 (1 May 2024)

    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 Rare syndromic craniosynostosis or isolated multisuture synostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 5.1
    Latest signed off version: v5.0 (1 May 2024)

    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 4.5
    Latest signed off version: v4.0 (22 Mar 2023)

    review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Disproportionate Short Stature
    Tags
    • curated_removed
    Green FGFR1 in DDG2P


    Version 4.5
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    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
    Tags
    • mosaicism
    Red FGFR1 in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.41
    Latest signed off version: v4.39 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert
    Green FGFR1 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    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 3.96
    Latest signed off version: v3.0 (22 Mar 2023)

    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 6.26
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • 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 1.184

    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