CAKUT
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 an expert reviewer 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, 1:52 p.m. | Last Modified: 5 Nov 2019, 1:52 p.m.
Panel Version: 1.40
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 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
KAL1 was changed to ANOS1
new-gene-name was removed from KAL1. Panel: CAKUT
Phenotypes for KAL1 were set to Kallman syndrome; Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for KAL1 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
This gene has been classified as Amber List (Moderate Evidence).
KAL1 was added to CAKUTpanel. Sources: Expert Review