Eleanor Williams changed review comment from: 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.; to: 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.
Eleanor Williams Added comment: 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.
Eleanor Williams Mode of inheritance for gene: ANOS1 was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females