Renal and urinary tract disorders
Gene: ANOS1Comment on mode of inheritance: Updating the MOI to X-LINKED: hemizygous mutation in males, biallelic mutations in females. This MOI has proposed by 2 reviewers and agrees with that found in OMIM. 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, 1:51 p.m. | Last Modified: 5 Nov 2019, 1:51 p.m.
Panel Version: 1.19
Although unilateral renal agenesis is seen in a subset of individuals with Kallmann syndrome due to variants in ANOS1, there is little evidence that this is associated with impaired renal function in childhood. PMID:9719154 reports overt renal failure in one adult with a contiguous deletion involving KAL1, and evidence of impaired renal function in a second adult with a clinical diagnosis of Kallmann syndrome. Both had unilateral renal agenesis.Created: 3 Dec 2018, 7:54 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)
Publications
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
added new-gene-name tag, new symbol is ANOS1Created: 27 Feb 2017, 1:55 p.m.
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous variants reportedCreated: 4 Aug 2016, 2:03 p.m.
Comment on list classification: Gene added by reviewer. The new HGNC-approved symbol for this gene is ANOS1 (for genome build 38).Created: 22 Apr 2016, 12:22 p.m.
Comment on list classification: Two reviewers agree this gene should be green.Created: 22 Apr 2016, 12:04 p.m.
Numerous publications show that X-linked Kallman syndrome (i.e. KAL1 mutant) hemizygous males have a 20-30% risk of being born with a single kidney.Created: 22 Apr 2016, 11:43 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mode of inheritance for gene: ANOS1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adrian Woolf: Numerous publications show tha
Added phenotypes Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) for gene: ANOS1 Publications for gene ANOS1 were changed from to 11531922; 9719154
gene: ANOS1 was added gene: ANOS1 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: ANOS1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: ANOS1 were set to Kallman syndrome; Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)