1. Genes and Genomic Entities
  2. FGFR1

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 1.70

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


Level 2: Neurology
Version 5.8
Latest signed off version: v5.0 (7 Aug 2024)

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


Level 2: Endocrinology
Version 4.2
Latest signed off version: v4.0 (30 Apr 2025)

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


Level 2: Endocrinology
Version 4.4
Latest signed off version: v4.0 (30 Apr 2025)

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


Level 2: Musculoskeletal
Version 7.20
Latest signed off version: v7.0 (30 Apr 2025)

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
    • Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950
    • Hartsfield syndrome, OMIM:615465
    Tags
    • Q1_26_MOI
    Green FGFR1 in Hypogonadotropic hypogonadism

    Level 3: Hypothalamic and pituitary disorders
    Level 2: Endocrine disorders
    Version 1.42

    		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)


    Level 2: Endocrinology
    Version 4.7
    Latest signed off version: v4.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Wessex and West Midlands GLH
    • NHS GMS
    • South West GLH
    Phenotypes
    • Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950
    • Hartsfield syndrome, OMIM:615465
    Tags
    • Q1_26_MOI
    Green FGFR1 in Mosaic skin disorders - deep sequencing


    Level 2: Dermatology
    Version 3.27
    Latest signed off version: v3.0 (30 Apr 2025)

    		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


    Level 2: Musculoskeletal
    Version 1.16
    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
    No list FGFR1 in Differences in sex development


    Level 2: Endocrinology
    Version 4.14
    Latest signed off version: v4.5 (1 May 2024)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Research
    • Literature
    Phenotypes
    • Hypogonadotropic hypogonadism 2 with out without anosmia
    Green FGFR1 in Holoprosencephaly - NOT chromosomal


    Level 2: Neurology
    Version 5.9
    Latest signed off version: v5.1 (30 Oct 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
    • Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950
    • Hartsfield syndrome, OMIM:615465
    Tags
    • Q1_26_MOI
    Green FGFR1 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.34
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

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


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		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 2: Musculoskeletal
    Version 6.3
    Latest signed off version: v6.0 (30 Apr 2025)

    		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 2: Musculoskeletal
    Version 5.4
    Latest signed off version: v5.0 (30 Apr 2025)

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


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    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 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Expert
    Green FGFR1 in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert list
    Phenotypes
    • Hartsfield syndrome, 615465
    • Hypogonadotropic hypogonadism 2 with or without anosmia, 147950
    • Kallmann syndrome 2
    Tags
    • watchlist_moi
    Red FGFR1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    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
    Red FGFR1 in Monogenic short stature


    Level 2: Endocrinology
    Version 1.31
    Latest signed off version: v1.0 (7 Aug 2024)

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