1. Genes and Genomic Entities
  2. FGFR3

FGFR3

fibroblast growth factor receptor 3
OMIM: 134934, Gene2Phenotype

24 panels

Panel Reviews Mode of inheritance Details
24 panels
Green FGFR3 in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.25

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • LADD syndrome, 149730
  • Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs
  • short radius
Green FGFR3 in Choanal atresia

Level 3: Choanal anomalies
Level 2: Skeletal disorders
Version 1.17

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Crouzon syndrome with acanthosis nigricans 612247
Red FGFR3 in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.35

review Not set
Sources
  • Emory Genetics Laboratory
Green FGFR3 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
  • Achondroplasia, OMIM:100800
  • Thanatophoric dysplasia, OMIM:187600
  • Crouzon syndrome with acanthosis nigricans, OMIM:612247
  • Muenke syndrome, OMIM:602849
Red FGFR3 in Insulin resistance (including lipodystrophy)

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.18

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypochondroplasia, 146000
  • Crouzon syndrome with acanthosis nigricans, 612247
Green FGFR3 in Deafness and congenital structural abnormalities

Level 3: Deafness and congenital structural abnormalities
Level 2: Hearing and ear disorders
Version 1.37

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
Phenotypes
  • Bilateral Microtia
  • 149730
  • LADD syndrome (lacrimo auriculo dento digital)
  • syndromic features
  • Achondroplasia 100800
  • Crouzon syndrome with acanthosis nigricans
Green FGFR3 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, imprinted status unknown
    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
    • Thanatophoric dysplasia, type II 187601
    • Polydactyly
    • LADD syndrome 149730
    • LADD syndrome, 149730
    • short radius
    • Achondroplasia 100800
    • SADDAN 616482
    • Thanatophoric dysplasia, type I 187600
    • Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs
    • Hypochondroplasia 146000
    • CATSHL syndrome 610474
    • Crouzon syndrome with acanthosis nigricans 612247
    • Muenke syndrome 602849
    Green FGFR3 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
    • Syringocystadenoma papilliferum
    • Epidermal naevi
    No list FGFR3 in Multiple monogenic benign skin tumours


    Level 2: Dermatology
    Version 2.5
    Latest signed off version: v2.0 (30 Nov 2022)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Removed
    • London North GLH
    • NHS GMS
    Phenotypes
    • Epidermal naevi
    • Syringocystadenoma papilliferum
    Tags
    • curated_removed
    No list FGFR3 in Monogenic diabetes


    Level 2: Endocrinology
    Version 3.10
    Latest signed off version: v3.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Removed
    Phenotypes
    • Hypochondroplasia, 146000
    • Crouzon syndrome with acanthosis nigricans, 612247
    Tags
    • curated_removed
    Green FGFR3 in Arthrogryposis


    Level 2: Neurology
    Version 9.24
    Latest signed off version: v9.0 (30 Apr 2025)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • CATSHL syndrome, OMIM:610474
    • camptodactyly-tall stature-scoliosis-hearing loss syndrome, MONDO:0012504
    Tags
    • Q1_26_MOI
    Green FGFR3 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
    • Muenke syndrome OMIM:602849
    • Crouzon syndrome with acanthosis nigricans OMIM:612247
    • Thanatophoric dysplasia, type I OMIM:187600
    • Thanatophoric dysplasia, type II OMIM:187601
    Green FGFR3 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    Phenotypes
    • CATSHL syndrome, OMIM:610474
    • camptodactyly-tall stature-scoliosis-hearing loss syndrome, MONDO:0012504
    Tags
    • Q1_26_MOI
    Green FGFR3 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
    • LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME
    • MUENKE SYNDROME
    • ACHONDROPLASIA
    • CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS
    • CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME
    • HYPOCHONDROPLASIA
    • THANATOPHORIC DYSPLASIA TYPE 2
    • THANATOPHORIC DYSPLASIA TYPE 1
    Green FGFR3 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, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Expert list
    Phenotypes
    • Muenke syndrome
    • Crouzon syndrome with acanthosis nigricans
    No list FGFR3 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 FGFR3 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
    • THANATOPHORIC DYSPLASIA TYPE 2 187601
    • THANATOPHORIC DYSPLASIA TYPE 1 187600
    • MUENKE SYNDROME 602849
    • ACHONDROPLASIA 100800
    • CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS 612247
    • CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME 610474
    • LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME 149730
    • HYPOCHONDROPLASIA 146000
    Red FGFR3 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
    • Emory Genetics Laboratory
    Phenotypes
    • hearing loss
    Amber FGFR3 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, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Muenke syndrome, OMIM:602849
    • Hypochondroplasia, OMIM:146000
    Green FGFR3 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypochondroplasia, OMIM:146000
    • hypochondroplasia, MONDO:0007793
    Red FGFR3 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Red
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • CATSHL syndrome 610474
    • Hypochondroplasia 146000
    • SADDAN 616482
    • Muenke syndrome 602849
    • Thanatophoric dysplasia, type I 187600
    Tags
    • adult-onset
    Red FGFR3 in Paediatric or syndromic cardiomyopathy


    Level 2: Cardiology
    Version 7.96
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Green FGFR3 in Thanatophoric dysplasia


    Level 2: Musculoskeletal
    Version 1.3
    Latest signed off version: v1.0 (14 Sep 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Thanatophoric dysplasia, type I, OMIM:187600
    • Thanatophoric dysplasia, type II, OMIM:187601
    • thanatophoric dysplasia, MONDO:0017042
    Green FGFR3 in Monogenic short stature


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

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • Hypochondroplasia, OMIM:146000
    • Crouzon syndrome with acanthosis nigricans, OMIM:612247
    • Thanatophoric dysplasia, type I, OMIM:187600
    • Thanatophoric dysplasia, type II, OMIM:187601