Differences of Sex Development
Gene: ANOS1
Well established gene-disease association. Affected individuals have absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis.Created: 8 Nov 2021, 1:52 a.m. | Last Modified: 8 Nov 2021, 1:52 a.m.
Panel Version: 0.217
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700
Publications
Gene: anos1 has been classified as Green List (High Evidence).
Phenotypes for gene: ANOS1 were changed from to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700
Publications for gene: ANOS1 were set to
Mode of inheritance for gene: ANOS1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
gene: ANOS1 was added gene: ANOS1 was added to Disorders of Sex Differentiation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ANOS1 was set to Unknown