PanelApp (stage)
  1. Genes and Genomic Entities
  2. FGFR1

FGFR1

fibroblast growth factor receptor 1
OMIM: 136350, Gene2Phenotype

22 panels

Panel Reviews Mode of inheritance Details
22 panels

Green FGFR1 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.223

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Osteoglophonic dysplasia-MIM#166250

Red FGFR1 in Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic


Level 2: Renal and urinary tract disorders
Version 0.117

Component of the following Super Panels:

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

    		•  review Unknown
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services

    Red FGFR1 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.356

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Hartsfield syndrome, MIM#615465

    Green FGFR1 in Craniosynostosis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.68

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Pfeiffer syndrome, MIM# 101600
    • Jackson-Weiss syndrome 123150

    Green FGFR1 in Differences of Sex Development


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.293

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green FGFR1 in Holoprosencephaly and septo-optic dysplasia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.16

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hartsfield syndrome, MIM# 615465

    Green FGFR1 in Hydrocephalus_Ventriculomegaly


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.123

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Pfeiffer syndrome, MIM# 101600

    Green FGFR1 in Mendeliome


    Version 1.1891

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Encephalocraniocutaneous lipomatosis, somatic mosaic 613001
    • Hartsfield syndrome 615465
    • Hypogonadotropic hypogonadism 2 with or without anosmia 147950
    • Jackson-Weiss syndrome 123150
    • Osteoglophonic dysplasia 166250
    • Pfeiffer syndrome 101600
    • Trigonocephaly 1 190440
    Tags
    • somatic

    Green FGFR1 in Polydactyly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.276

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

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

    Amber FGFR1 in Calcium and Phosphate disorders


    Level 2: Renal and urinary tract disorders; Endocrine disorders
    Version 1.24

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Other
    Phenotypes
    • osteoglophonic dwarfism MONDO:0008150

    Green FGFR1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Hartsfield syndrome (MIM#615465)

    Green FGFR1 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.522

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green FGFR1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Hartsfield syndrome, MIM# 615465

    Green FGFR1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert Review Green
    • NHS GMS
    • Expert list
    • Emory Genetics Laboratory
    Phenotypes
    • Hypogonadotropic hypogonadism 2 with or without anosmia 147950
    • Hartsfield syndrome 615465
    • Osteoglophonic dysplasia 166250
    • Pfeiffer syndrome 101600
    • Encephalocraniocutaneous lipomatosis, somatic mosaism 613001
    • Jackson-Weiss syndrome 123150
    • Trigonocephaly 1 190440

    Green FGFR1 in Primary Ovarian Insufficiency_Premature Ovarian Failure

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 0.328

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Hypogonadotropic hypogonadism 2 with or without anosmia 147950

    Green FGFR1 in Pituitary hormone deficiency


    Level 2: Endocrine disorders
    Version 0.34

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Jackson-Weiss syndrome (123150)
    • Pfeiffer syndrome (101600)
    • Hypogonadotropic hypogonadism 2 with or without anosmia (147950)
    • Hartsfield syndrome (615465)

    Green FGFR1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Kallmann syndrome

    Green FGFR1 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.252

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

    Green FGFR1 in Incidentalome_PREGEN_DRAFT


    Version 0.43

    		review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Green FGFR1 in Mosaic skin disorders


    Level 2: Dermatological disorders
    Version 1.12

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

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

    Green FGFR1 in Fetal anomalies


    Version 1.255

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Pfeiffer syndrome, MIM# 101600

    Red FGFR1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Encephalocraniocutaneous lipomatosis, somatic mosaic 613001
    • Hartsfield syndrome 615465
    • Hypogonadotropic hypogonadism 2 with or without anosmia 147950
    • Jackson-Weiss syndrome 123150
    • Osteoglophonic dysplasia 166250
    • Pfeiffer syndrome 101600
    • Trigonocephaly 1 190440