Hypogonadotropic hypogonadism
Gene: ANOS1Comment 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
added new-gene-name tag, new symbol is ANOS1Created: 27 Feb 2017, 1:55 p.m.
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.
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.
Mode of inheritance for gene: ANOS1 was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females
KAL1 was changed to ANOS1
new-gene-name was removed from KAL1. Panel: Idiopathic hypogonadotropic hypogonadism monogenic-polygenic was removed from KAL1. Panel: Idiopathic hypogonadotropic hypogonadism
KAL1 was changed to KAL1
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.
Mode of inheritance for KAL1 was changed to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for KAL1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for KAL1 were set to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700
ANOS1* was changed to KAL1
Publications for ANOS1* were set to 25328414; 23410897; 20530987; 26278626
This gene has been classified as Green List (High Evidence).
ANOS1* was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Radboud University Medical Center, Nijmegen,Expert list,Other
Publications for ANOS1* were set to 25328414; 23410897; 20530987
This gene has been classified as Green List (High Evidence).
ANOS1* was added to Idiopathic hypogonadotropic hypogonadismpanel. Source:
ANOS1* was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Radboud University Medical Center, Nijmegen
ANOS1* was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: OMIM
ANOS1* was created by sleigh