ANOS1

PanelMode of inheritanceDetails
4 panels
R-numbers: R21, R412
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700
R-numbers: R148
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Hypogonadotropic hypogonadism type 1 (OMIM 308700)
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
CAKUT, Kallman syndrome, Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700
R-numbers: R257
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), Kallman syndrome