FGFR2

fibroblast growth factor receptor 2
OMIM: 176943, Gene2Phenotype

25 panels

Panel Reviews Mode of inheritance Details
25 panels

Amber FGFR2 in Familial hidradenitis suppurativa

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.1

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Nevus comedonicus, multifocal hidradenitis suppurativa and acne

Green FGFR2 in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.15

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 FGFR2 in Choanal atresia

Level 3: Choanal anomalies
Level 2: Skeletal disorders
Version 1.15

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Eligibility statement prior genetic testing
Phenotypes
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410
  • Apert syndrome 101200
  • Beare-Stevenson cutis gyrata syndrome 123790
  • Pfeiffer syndrome 101600
  • Craniofacial-skeletal-dermatologic dysplasia 101600
  • Craniosynostosis, nonspecific

Red FGFR2 in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.32

review Not set
Sources
  • Emory Genetics Laboratory

Green FGFR2 in Hydrocephalus


Version 2.116
Latest signed off version: v2.3 (2 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Apert syndrome, OMIM:101200
  • Crouzon syndrome, OMIM:123500

Green FGFR2 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
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Bilateral Microtia
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410
  • Apert syndrome 101200
  • Beare-Stevenson cutis gyrata syndrome 123790
  • Bent bone dysplasia syndrome 614592
  • Craniofacial-skeletal-dermatologic dysplasia, Pfeiffer syndrome 101600
  • Crouzon syndrome 123500
  • LADD syndrome

Green FGFR2 in Limb disorders


Version 2.57
Latest signed off version: v2.2 (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
    • Polydactyly
    • LADD syndrome 149730
    • LADD syndrome, 149730
    • Craniosynostosis, nonspecific Crouzon syndrome 123500
    • short radius
    • Craniofacial-skeletal-dermatologic dysplasia 101600
    • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410
    • Gastric cancer, somatic 613659
    • Beare-Stevenson cutis gyrata syndrome 123790
    • Jackson-Weiss syndrome 123150
    • Pfeiffer syndrome 101600
    • Bent bone dysplasia syndrome 614592
    • Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs
    • Apert syndrome 101200

    Amber FGFR2 in Mosaic skin disorders - deep sequencing


    Version 1.5
    Latest signed off version: v1.3 (15 Oct 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    Phenotypes
    • Epdermal naevi

    No list FGFR2 in Multiple monogenic benign skin tumours


    Version 1.12
    Latest signed off version: v1.3 (15 Oct 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Removed
    • London North GLH
    • NHS GMS
    Phenotypes
    • Beare-Stevenson cutis gyrata
    Tags
    • curated_removed

    Green FGFR2 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.122
    Latest signed off version: v3.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410

    Green FGFR2 in Common craniosynostosis syndromes


    Version 1.13
    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
    • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis OMIM:207410
    • Apert syndrome OMIM:101200
    • Beare-Stevenson cutis gyrata syndrome OMIM:123790
    • Pfeiffer syndrome OMIM:101600
    • Craniofacial-skeletal-dermatologic dysplasia OMIM:101600
    • Crouzon syndrome OMIM:123500
    • Jackson-Weiss syndrome OMIM:123150
    • Saethre-Chotzen syndrome OMIM:101400
    • Scaphocephaly, maxillary retrusion, and mental retardation OMIM:609579

    Amber FGFR2 in Disorders of sex development

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 2.49
    Latest signed off version: v2.2 (3 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • LADD syndrome, OMIM:149730
    • Bent bone dysplasia syndrome, OMIM:614592
    Tags
    • Q2_21_expert_review

    Green FGFR2 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.126
    Latest signed off version: v2.2 (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
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Beare-Stevenson cutis gyrata syndrome 123790
    • Craniosynostosis, nonspecific Crouzon syndrome 123500
    • Craniofacial-skeletal-dermatologic dysplasia 101600
    • Pfeiffer syndrome 101600
    • Gastric cancer, somatic 613659
    • Jackson-Weiss syndrome 123150
    • LADD syndrome 149730
    • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410
    • Apert syndrome 101200
    • Bent bone dysplasia syndrome 614592

    Green FGFR2 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.486

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410
    • Apert syndrome 101200
    • Beare-Stevenson cutis gyrata syndrome 123790
    • Bent bone dysplasia syndrome 614592
    • Craniofacial-skeletal-dermatologic dysplasia 101600
    • Craniosynostosis, nonspecific
    • Crouzon syndrome 123500
    • Gastric cancer, somatic 613659
    • Jackson-Weiss syndrome 123150
    • LADD syndrome 149730
    • Pfeiffer syndrome 101600
    • Saethre-Chotzen syndrome 101400
    • Scaphocephaly and Axenfeld-Rieger anomaly
    • Scaphocephaly, maxillary retrusion, and mental retardation 609579

    Green FGFR2 in Inborn errors of metabolism


    Version 2.180
    Latest signed off version: v2.3 (17 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    Phenotypes
    • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410
    • Apert syndrome 101200
    • Beare-Stevenson cutis gyrata syndrome 123790
    • Bent bone dysplasia syndrome 614592
    • Craniofacial-skeletal-dermatologic dysplasia 101600
    • Craniosynostosis, nonspecific
    • Crouzon syndrome 123500
    • Gastric cancer, somatic 613659
    • Jackson-Weiss syndrome 123150
    • LADD syndrome 149730
    • Pfeiffer syndrome 101600
    • Saethre-Chotzen syndrome 101400
    • Scaphocephaly and Axenfeld-Rieger anomaly
    • Scaphocephaly, maxillary retrusion, and mental retardation 609579

    Green FGFR2 in Fetal anomalies


    Version 1.717
    Latest signed off version: v1.92 (21 Aug 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • BEARE-STEVENSON CUTIS GYRATA SYNDROME
    • LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME
    • JACKSON-WEISS SYNDROME
    • ACROCEPHALOSYNDACTYLY TYPE V
    • FAMILIAL SCAPHOCEPHALY SYNDROME
    • ANTLEY-BIXLER SYNDROME
    • CROUZON SYNDROME
    • APERT SYNDROME

    Green FGFR2 in Craniosynostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 2.53
    Latest signed off version: v2.2 (13 Feb 2020)

    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
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Crouzon syndrome, 123500
    • Jackson-Weiss syndrome, 123150
    • Beare-Stevenson cutis gyrata syndrome, 123790
    • Pfeiffer syndrome, 101600
    • Apert syndrome, 101200
    • Saethre-Chotzen
    • Craniosynostosis, nonspecific syndrome, 101400
    • Gastric cance
    • Craniosynostosis

    No list FGFR2 in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.37
    Latest signed off version: v2.2 (13 Feb 2020)

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

    Green FGFR2 in DDG2P


    Version 2.46
    Latest signed off version: v2.2 (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
    • BEARE-STEVENSON CUTIS GYRATA SYNDROME 123790
    • ANTLEY-BIXLER SYNDROME 207410
    • FAMILIAL SCAPHOCEPHALY SYNDROME 609579
    • JACKSON-WEISS SYNDROME 123150
    • APERT SYNDROME 101200
    • CROUZON SYNDROME 123500
    • LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME 149730
    • ACROCEPHALOSYNDACTYLY TYPE V 101600

    Red FGFR2 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.185
    Latest signed off version: v2.5 (13 Feb 2020)

    review Not set
    Sources
    • Expert

    Green FGFR2 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.49
    Latest signed off version: v2.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • APERT SYNDROME

    Amber FGFR2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1306
    Latest signed off version: v3.2 (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
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Antley-Bixler syndrome
    • Apert syndrome
    • Crouzon syndrome
    • Beare-Stevenson Cutis Gyrata syndrome

    Red FGFR2 in Groopman et al 2019 - Genes with diagnostic variants


    Version 0.8

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Expert review red
    • Literature
    Phenotypes
    • Nephropathy of unknown origin
    • MIM 101600
    • Pfeiffer syndrome

    Red FGFR2 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.156
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green FGFR2 in Severe Paediatric Disorders


    Version 1.84

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Saethre-Chotzen syndrome, 101400
    • Apert syndrome, 101200
    • Beare-Stevenson cutis gyrata syndrome, 123790
    • Pfeiffer syndrome, 101600
    • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410
    • Crouzon syndrome, 123500
    • Scaphocephaly and Axenfeld-Rieger anomaly
    • Craniofacial-skeletal-dermatologic dysplasia, 101600
    • Bent bone dysplasia syndrome, 614592
    • Craniosynostosis, nonspecific
    • LADD syndrome, 149730
    • Scaphocephaly, maxillary retrusion, and mental retardation, 609579
    • Jackson-Weiss syndrome, 123150