FGFR3

fibroblast growth factor receptor 3
OMIM: 134934, Gene2Phenotype

24 panels

Panel Reviews Mode of inheritance Details
24 panels

Green FGFR3 in ClinGen Gene Validity Curations


Version 0.64

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
  • Other
Phenotypes
  • Achondroplasia
  • ORPHA15
  • OMIM 100800

Green FGFR3 in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.10

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 1.13

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • 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 1.25

review Not set
Sources
  • Emory Genetics Laboratory

Green FGFR3 in Hydrocephalus


Version 2.5
Signed off v.2.3 on 2 Mar 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Achondroplasia 100800
  • Thanatophoric dysplasia 187600
  • Crouzon syndrome with acanthosis nigricans 612247
  • Muenke syndrome 602849

Red FGFR3 in Insulin resistance (including lipodystrophy)

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.11

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 1.17

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Expert list
  • Expert Review Green
Phenotypes
  • Bilateral Microtia
  • 149730
  • LADD syndrome (lacrimo auriculo dento digital)
  • syndromic features
  • Achondroplasia 100800
  • Crouzon syndrome with acanthosis nigricans

Green FGFR3 in Limb disorders


Version 2.11
Signed off v.2.2 on 13 Feb 2020

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


    Version 1.3
    Signed off v.1.2 on 19 Feb 2020

    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


    Version 1.3
    Signed off v.1.2 on 19 Feb 2020

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

    No list FGFR3 in Monogenic diabetes


    Version 2.3
    Signed off v.2.2 on 25 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Removed
    Phenotypes
    • Hypochondroplasia, 146000
    • Crouzon syndrome with acanthosis nigricans, 612247

    Green FGFR3 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.11
    Signed off v.3.2 on 13 Feb 2020

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • CATSHL syndrome 610474

    Green FGFR3 in Common craniosynostosis syndromes


    Version 1.3
    Signed off v.1.2 on 13 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert list
    • Expert Review Green
    Phenotypes
    • Muenke syndrome 602849
    • Crouzon syndrome with acanthosis nigricans 612247
    • Thanatophoric dysplasia, type I 187600
    • Thanatophoric dysplasia, type II 187601

    Green FGFR3 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.9
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Thanatophoric dysplasia, type I 187600
    • Muenke syndrome 602849
    • CATSHL syndrome 610474
    • SADDAN 616482
    • Thanatophoric dysplasia, type II 187601
    • Achondroplasia 100800
    • LADD syndrome 149730
    • Hypochondroplasia 146000
    • Crouzon syndrome with acanthosis nigricans 612247

    Green FGFR3 in Fetal anomalies


    Version 1.73
    Signed off v.1.2 on 17 Feb 2020

    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 Craniosynostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 2.9
    Signed off v.2.2 on 13 Feb 2020

    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 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.6
    Signed off v.2.2 on 13 Feb 2020

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

    Green FGFR3 in DDG2P


    Version 2.8
    Signed off v.2.2 on 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
    • 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 Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.37
    Signed off v.2.5 on 13 Feb 2020

    review Not set
    Sources
    • Expert
    • Emory Genetics Laboratory
    Phenotypes
    • hearing loss

    Green FGFR3 in Growth failure in early childhood


    Version 1.8
    Signed off v.1.4 on 3 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • Hypochondroplasia, 146000

    Amber FGFR3 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.102
    Signed off v.2.2 on 13 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypochondroplasia, 146000
    • Focal Epilepsy
    • Muenke syndrome, 602849
    • Epilepsy

    Red FGFR3 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.135
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 Kidneyome_SuperPanel_VCGS


    Level 2: Renal and urinary tract disorders
    Version 0.2

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Red
    Phenotypes
    • LADD syndrome, MIM#149730

    Green FGFR3 in Severe Paediatric Disorders


    Version 1.6

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Thanatophoric dysplasia, type II, 187601
    • Muenke syndrome, 602849
    • SADDAN, 616482
    • Crouzon syndrome with acanthosis nigricans, 612247
    • CATSHL syndrome, 610474
    • Achondroplasia, 100800
    • LADD syndrome, 149730
    • Thanatophoric dysplasia, type I, 187600
    • Hypochondroplasia, 146000