Hypogonadotropic hypogonadism
Gene: ANOS1EnsemblGeneIds (GRCh38): ENSG00000011201
EnsemblGeneIds (GRCh37): ENSG00000011201
OMIM: 300836, Gene2Phenotype
ANOS1 is in 7 panels
7 reviews
Eleanor Williams (Genomics England Curator)
Comment on mode of inheritance: Updating the mode of inheritance from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females. This gene is not in the pseudoautosomal region of the X chromosome. Mode of inhertiance in OMIM is XLR for Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) and several papers support this e.g. PMID: 15001591 - reports only male cases with ANOS1 variants, with female carriers, PMID: 11297579 - reports male cases and states that obligate female carriers in families with KAL mutations have no discernible phenotype.Created: 5 Nov 2019, 11:11 a.m. | Last Modified: 5 Nov 2019, 11:51 a.m.
Panel Version: 1.27
Louise Daugherty (Genomics England Curator)
added new-gene-name tag, new symbol is ANOS1Created: 27 Feb 2017, 1:55 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Changed the mode of inheritance from 'Both' to 'Biallelic', before promoting this panel to version 1 due to internal discussion. It may be that studies reporting monoallelic variants in this gene did not examine fully whether variants in other genes had a second variant and therefore monoallelic variants in this gene may not provide a complete diagnosis.Created: 28 Oct 2016, 1:17 p.m.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: The approved HGNC name for KAL1 is ANOS1.
Associated with phenotype in OMIM, not in G2P. Found in 1/4 sources. Three expert reviewers recommend Green. At least 14 variants reported as homozygotes, heterozygotes. One report of association with variants in mitochondrial gene MT-tRNA(cys)(PMID 26278626)Created: 13 Oct 2016, 8:34 a.m.
Richard Quinton (Newcastle University)
Mehul Dattani (UCL Institute of Child Health)
Louise IZATT (GSTT Clinical Genetics Service)
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Other
- Expert list
- Radboud University Medical Center, Nijmegen
- OMIM
- Phenotypes
-
- Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700
- OMIM
- 300836
- Clinvar variants
- Variants in ANOS1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set mode of inheritance
Eleanor Williams (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
Changed Gene Name
GEL ()KAL1 was changed to ANOS1
Removed Tag, Removed Tag
GEL ()new-gene-name was removed from KAL1. Panel: Idiopathic hypogonadotropic hypogonadism monogenic-polygenic was removed from KAL1. Panel: Idiopathic hypogonadotropic hypogonadism
Changed Gene Name
Antonio Rueda (GEL)KAL1 was changed to KAL1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)28th Oct 2016: This panel was revised after external expert review and internal discussion. For several genes that have been shown to contribute to the disorder in a digenic/polygenic manner, the decision was made to only include genes as green if biallelic variants had been reported independently from other genes. Genes with a monoallelic mechanism, that have been shown in some studies in conjunction with variants in other genes, were made red as monoallelic variants in these genes may not provide a complete diagnosis.
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for KAL1 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for KAL1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for KAL1 were set to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700
Changed Gene Name
Sarah Leigh (Genomics England Curator)ANOS1* was changed to KAL1
Set publications
Sarah Leigh (Genomics England Curator)Publications for ANOS1* were set to 25328414; 23410897; 20530987; 26278626
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)ANOS1* was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Radboud University Medical Center, Nijmegen,Expert list,Other
Set publications
Sarah Leigh (Genomics England Curator)Publications for ANOS1* were set to 25328414; 23410897; 20530987
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Mehul Dattani (UCL Institute of Child Health)ANOS1* was added to Idiopathic hypogonadotropic hypogonadismpanel. Source:
Added New Source
Sarah Leigh (Genomics England Curator)ANOS1* was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Sarah Leigh (Genomics England Curator)ANOS1* was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: OMIM
Created
Sarah Leigh (Genomics England Curator)ANOS1* was created by sleigh