ANOS1

anosmin 1
OMIM: 300836, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green ANOS1 in Hypogonadotropic hypogonadism

Level 3: Hypothalamic and pituitary disorders
Level 2: Endocrine disorders
Version 1.33

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Other
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • OMIM
Phenotypes
  • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700

Green ANOS1 in Hypogonadotropic hypogonadism idiopathic


Version 1.47
Latest signed off version: v1.4 (4 Mar 2020)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Hypogonadotropic hypogonadism type 1 (OMIM 308700)

Red ANOS1 in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.99

Component of the following Super Panels:

  • Renal superpanel - broad
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • Expert Review
    Phenotypes
    • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700

    Green ANOS1 in CAKUT

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 1.165

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Kallman syndrome
    • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)

    Green ANOS1 in Unexplained paediatric onset end-stage renal disease


    Version 1.23
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)
    • Kallman syndrome

    Green ANOS1 in Fetal anomalies


    Version 1.749
    Latest signed off version: v1.92 (21 Aug 2020)

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

    Amber ANOS1 in Paediatric disorders - additional genes


    Version 1.94
    Latest signed off version: v1.1 (11 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • Other
    Phenotypes
    • CAKUT
    • Kallman syndrome
    • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700
    Tags
    • for-review

    Red ANOS1 in Groopman et al 2019 - Genes with diagnostic variants


    Version 0.8

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Red
    • Expert review red
    • Literature
    Phenotypes
    • MIM 308700
    • Glomerulopathy
    • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)

    Green ANOS1 in Severe Paediatric Disorders


    Version 1.84

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700