Hypogonadotropic hypogonadism (GMS)
Gene: ANOS1EnsemblGeneIds (GRCh38): ENSG00000011201
EnsemblGeneIds (GRCh37): ENSG00000011201
OMIM: 300836, Gene2Phenotype
ANOS1 is in 7 panels
3 reviews
Ivone Leong (Genomics England Curator)
Comment on mode of inheritance: MOI was corrected.Created: 5 Nov 2019, 11:39 a.m. | Last Modified: 5 Nov 2019, 11:39 a.m.
Panel Version: 1.1
Simon Thomas (Wessex Regional Genetics Laboratory)
Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Wessex and West Midlands GLH
- NHS GMS
- South West GLH
- Phenotypes
-
- Hypogonadotropic hypogonadism type 1 (OMIM 308700)
- OMIM
- 300836
- Clinvar variants
- Variants in ANOS1
- Penetrance
- None
- Panels with this gene
History Filter Activity
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: ANOS1 was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: anos1 has been classified as Green List (High Evidence).
Added New Source
Ivone Leong (Genomics England Curator)Source Wessex and West Midlands GLH was added to ANOS1.
Set Phenotypes
Ivone Leong (Genomics England Curator)Added phenotypes Hypogonadotropic hypogonadism type 1 (OMIM 308700) for gene: ANOS1
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: ANOS1 was added gene: ANOS1 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: ANOS1 was set to BIALLELIC, autosomal or pseudoautosomal