Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: ANOS1EnsemblGeneIds (GRCh38): ENSG00000011201
EnsemblGeneIds (GRCh37): ENSG00000011201
OMIM: 300836, Gene2Phenotype
ANOS1 is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Central cause of hypogonadism, typically affects males but some female carriers affected.Created: 13 Dec 2020, 6:18 a.m. | Last Modified: 13 Dec 2020, 6:18 a.m.
Panel Version: 0.170
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700
- OMIM
- 300836
- Clinvar variants
- Variants in ANOS1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ANOS1 were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: anos1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ANOS1 was added gene: ANOS1 was added to Amenorrhoea. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ANOS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ANOS1 were set to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700