PanelApp
  1. Genes and Genomic Entities
  2. FGFR3

FGFR3

fibroblast growth factor receptor 3
OMIM: 134934, Gene2Phenotype

21 panels

Panel Reviews Mode of inheritance Details
21 panels

Green FGFR3 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.239

1 review Unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

Green FGFR3 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.427

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Red FGFR3 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic


    Level 2: Renal and urinary tract disorders
    Version 0.159

    Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel

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

    Green FGFR3 in Craniosynostosis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.72

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Crouzon syndrome with acanthosis nigricans, MIM# 612247
    • Muenke syndrome, MIM# 602849

    Green FGFR3 in Hydrocephalus_Ventriculomegaly


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.132

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green FGFR3 in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.328

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Thanatophoric dysplasia

    Green FGFR3 in Mendeliome


    Version 1.3512

    		2 reviews BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • achondroplasia MONDO:0007037
    • Thanatophoric dysplasia type 1 MONDO:0008546
    • Thanatophoric dysplasia type 2 MONDO:0008547
    • hypochondroplasia MONDO:0007793
    • Muenke syndrome MONDO:0011274
    • FGFR3-related chondrodysplasia MONDO:0019685
    • severe achondroplasia-developmental delay-acanthosis nigricans syndrome MONDO:0014658
    • Crouzon syndrome-acanthosis nigricans syndrome MONDO:0012833
    • camptodactyly-tall stature-scoliosis-hearing loss syndrome MONDO:0012504

    Green FGFR3 in Polydactyly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.296

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green FGFR3 in Radial Ray Abnormalities


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.19

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

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

    Green FGFR3 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.267

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Hypochondroplasia, MIM#146000

    Green FGFR3 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.565

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green FGFR3 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • CATSHL syndrome 610474
    • Hypochondroplasia 146000
    • SADDAN 616482
    • Muenke syndrome 602849
    • Thanatophoric dysplasia, type I 187600

    Green FGFR3 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.346

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

    Green FGFR3 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • BabySeq Category C gene
    • BabySeq Category A gene
    Phenotypes
    • Crouzon syndrome with acanthosis nigricans
    • Achondroplasia
    • Muenke syndrome
    • CATSHL syndrome
    • Thanatophoric dysplasia type 1
    • LADD syndrome
    • Hypochondroplasia

    Amber FGFR3 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.278

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Muenke syndrome, OMIM:602849
    • Hypochondroplasia, OMIM:146000

    Red FGFR3 in Incidentalome_PREGEN_DRAFT


    Version 0.43

    		1 review Unknown
    Sources
    • Expert Review Red
    • NSW Health Pathology

    Green FGFR3 in Mosaic skin disorders


    Level 2: Dermatological disorders
    Version 1.14

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • NHS GMS
    Phenotypes
    • Epidermal naevi
    • Syringocystadenoma papilliferum
    Tags
    • somatic

    Green FGFR3 in Choanal atresia


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.6

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Radboud University Medical Center, Nijmegen
    • Eligibility statement prior genetic testing
    • UKGTN
    Phenotypes
    • Crouzon syndrome with acanthosis nigricans 612247

    Green FGFR3 in Growth failure


    Version 1.83

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Hypochondroplasia, MIM#146000

    Green FGFR3 in Fetal anomalies


    Version 1.465

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • LADD syndrome, MIM#149730
    • Achondroplasia, MIM# 100800
    • Thanatophoric dysplasia, type I, MIM# 187600
    • Thanatophoric dysplasia, type II, MIM# 187601

    Green FGFR3 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • BabySeq Category C gene
    • BabySeq Category A gene
    Phenotypes
    • Achondroplasia MONDO:0007037
    Tags
    • for review
    • treatable
    • clinical trial
    • skeletal