ANOS1

anosmin 1
OMIM: 300836, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green ANOS1 in Congenital anomalies of the kidney and urinary tract (CAKUT)


Level 2: Renal and urinary tract disorders
Version 0.201

Component of the following Super Panels:

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

    Green ANOS1 in Differences of Sex Development


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.44

    1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700

    Green ANOS1 in Mendeliome


    Version 1.4541

    1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700

    Green ANOS1 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.592

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

    Green ANOS1 in Primary Ovarian Insufficiency_Premature Ovarian Failure

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 0.404

    1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700

    Green ANOS1 in Pituitary hormone deficiency

    Level 3: Pituitary disorders
    Level 2: Endocrine disorders
    Version 0.176

    1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700

    Green ANOS1 in Fetal anomalies


    Version 1.542

    1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700

    Green ANOS1 in Infertility and Recurrent Pregnancy Loss


    Version 1.127

    1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700

    Green ANOS1 in Hypogonadotropic hypogonadism

    Level 3: Pituitary disorders
    Level 2: Endocrine disorders
    Version 0.82

    1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700