Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
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, 1:50 a.m. | Last Modified: 8 Nov 2021, 1:50 a.m.

Panel Version: 0.9622

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, 1:50 a.m.
Last Modified: 8 Nov 2021, 1:50 a.m.
Panel version: Imported from Mendeliome panel version 0.9622

Details

Mode of Inheritance

Unknown

Sources

Expert Review Green
Victorian Clinical Genetics Services
Victorian Clinical Genetics Services
Expert Review Green

OMIM

300836

Clinvar variants

Variants in ANOS1

Penetrance

None

Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ANOS1 was added gene: ANOS1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ANOS1 was set to Unknown

Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Gene: ANOS1