Differences of Sex Development
Gene: ANOS1

ANOS1 (anosmin 1)
EnsemblGeneIds (GRCh38): ENSG00000011201
EnsemblGeneIds (GRCh37): ENSG00000011201
OMIM: 300836, Gene2Phenotype
ANOS1 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 8 Nov 2021, 1:52 a.m.
Last Modified: 8 Nov 2021, 1:52 a.m.
Panel version: 0.217

Details

Mode of Inheritance

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

OMIM

300836

Clinvar variants

Variants in ANOS1

Penetrance

None

Publications

Panels with this gene