PanelApp
  1. Genes and Genomic Entities
  2. FGF8

FGF8

fibroblast growth factor 8
OMIM: 600483, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Red FGF8 in Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic


Level 2: Renal and urinary tract disorders
Version 0.127

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
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypogonadotropic hypogonadism 6 with or without anosmia
    • OMIM #612702

    Amber FGF8 in Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 0.474

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Congenital heart disease MONDO:0005453, FGF8-related

    Green FGF8 in Differences of Sex Development


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.24

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypogonadotropic hypogonadism 6 with or without anosmia, MIM# 612702

    Green FGF8 in Holoprosencephaly and septo-optic dysplasia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.21

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Holoprosencephaly
    • MONDO:0016296

    Green FGF8 in Mendeliome


    Version 1.3512

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypogonadotropic hypogonadism 6 with or without anosmia, MIM# 612702
    • Hypoplastic femurs and pelvis, MIM#619545
    Tags
    • SV/CNV

    Green FGF8 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.565

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

    Amber FGF8 in Skeletal dysplasia

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

    		2 reviews Unknown
    Sources
    • Expert Review Amber
    Phenotypes
    • Numerous variants reported in Hypogonadotropic hypogonadism 6 with or without anosmia 612702, but this phenotype is not relevant to this panel.
    Tags
    • SV/CNV

    Green FGF8 in Primary Ovarian Insufficiency_Premature Ovarian Failure

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 0.388

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Hypogonadotropic hypogonadism 6 with or without anosmia 612702

    Green FGF8 in Pituitary hormone deficiency


    Level 2: Endocrine disorders
    Version 0.58

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Hypogonadotropic hypogonadism 6 with or without anosmia (612702)

    Green FGF8 in Fetal anomalies


    Version 1.465

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Holoprosencephaly
    • MONDO:0016296

    Green FGF8 in Infertility and Recurrent Pregnancy Loss


    Version 1.50

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Hypogonadotropic hypogonadism 6 with or without anosmia, MIM# 612702