Unexplained kidney failure in young people

Gene: ANOS1

Comment on mode of inheritance: Updating the MOI to X-LINKED: hemizygous mutation in males, biallelic mutations in females. This MOI has proposed by 1reviewer 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, 1:52 p.m.

Panel Version: 1.75

Red List (low evidence)

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

• 11531922
• 9719154

Comment on list classification: demoted gene from Green to Amber due to clinical review- this is not a childhood onset

Created: 11 Dec 2018, 3:51 p.m.

Comment on publications: added publications recommended by clinical review

Created: 11 Dec 2018, 3:47 p.m.

Official HGNC gene name is now ANOS1.

added new-gene-name tag

Created: 18 Jan 2017, 4:32 p.m.

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous variants reported

Created: 4 Aug 2016, 2:03 p.m.