Unexplained kidney failure in young people
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 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
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
Comment on list classification: demoted gene from Green to Amber due to clinical review- this is not a childhood onsetCreated: 11 Dec 2018, 3:51 p.m.
Comment on publications: added publications recommended by clinical reviewCreated: 11 Dec 2018, 3:47 p.m.
Official HGNC gene name is now ANOS1.
added new-gene-name tagCreated: 18 Jan 2017, 4:32 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.
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
Gene: anos1 has been classified as Red List (Low Evidence).
Publications for gene: ANOS1 were set to
KAL1 was changed to ANOS1
new-gene-name was removed from KAL1. Panel: Unexplained kidney failure in young people
Promoted to version 1 17th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for KAL1 were set to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700
KAL1 was added to Unexplained kidney failure in young peoplepanel. Sources: Radboud University Medical Center, Nijmegen
Phenotypes for KAL1 were set to Kallman syndrome; Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700
KAL1 was created by sleigh
KAL1 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert Review,Expert Review Green