ANOS1

anosmin 1
OMIM: 300836, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green ANOS1 in Hypogonadotropic hypogonadism

Level 3: Hypothalamic and pituitary disorders
Level 2: Endocrine disorders
Version 1.42

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
  • Other
  • Radboud University Medical Center, Nijmegen
  • OMIM
Phenotypes
  • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700
Green ANOS1 in Hypogonadotropic hypogonadism (GMS)


Level 2: Endocrinology
Version 4.7
Latest signed off version: v4.0 (30 Apr 2025)

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 1.124

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 1.181

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 Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

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
Green ANOS1 in Paediatric disorders - additional genes


Level 2: Developmental disorders
Version 7.31
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • CAKUT
    • Kallman syndrome
    • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700
    Green ANOS1 in Unexplained young onset end-stage renal disease - additional genes


    Level 2: Renal
    Version 1.4
    Latest signed off version: v1.1 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    Phenotypes
    • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), OMIM:308700