Paediatric disorders - additional genes
Gene: ANOS1The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 10 Mar 2022, 3:53 p.m. | Last Modified: 10 Mar 2022, 3:53 p.m.
Panel Version: 1.96
Comment on list classification: Changed rating to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update.Created: 19 Oct 2020, 11:14 a.m. | Last Modified: 19 Oct 2020, 11:14 a.m.
Panel Version: 1.56
Comment on list classification: Updated rating from Amber to Green, awaiting GLH review. Sufficient cases to support Kallman syndrome association, which can present with phenotypes beyond renal, some of which could be detected at birth.Created: 14 May 2020, 1:45 p.m. | Last Modified: 14 May 2020, 1:45 p.m.
Panel Version: 1.30
PMID:16423815. Trarbach et al 2005 report 12 Kallmann syndrome (KS) patients. Two ANOS1 variants (referred to as KAL-1 gene) were found in 2 KS patients (Arg191X, and del1956C leading to a premature stop codon at 617). A patient with a KAL-1 microdeletion was also reported. Renal agenesis and bimanual synkinesis were observed in these cases.Created: 14 May 2020, 1:44 p.m. | Last Modified: 14 May 2020, 1:44 p.m.
Panel Version: 1.29
Sufficient cases of variants in ANOS1 to support association with Kallmann syndrome (MIM:308700). KS phenotypes are present at birth and can include renal agenesis, and micropenis. Cases are often reported at puberty with lack of sexual development.Created: 12 May 2020, 8:15 p.m. | Last Modified: 12 May 2020, 8:17 p.m.
Panel Version: 1.22
Added 'for-review' tag: Requires GLH review as to whether phenotype is sufficient for inclusion on Paediatric disorders panel.Created: 12 May 2020, 4:16 p.m. | Last Modified: 12 May 2020, 8:17 p.m.
Panel Version: 1.22
Added to Paediatric disorders - additional genes panel, based on Green rating on CAKUT panel V1.106.Created: 12 May 2020, 3:57 p.m. | Last Modified: 12 May 2020, 3:57 p.m.
Panel Version: 1.4
Tag for-review was removed from gene: ANOS1.
Source Expert Review Green was added to ANOS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: anos1 has been classified as Amber List (Moderate Evidence).
Gene: anos1 has been classified as Green List (High Evidence).
Gene: anos1 has been classified as Amber List (Moderate Evidence).
Publications for gene: ANOS1 were set to 1518845
Phenotypes for gene: ANOS1 were changed from CAKUT; Kallman syndrome; Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) to CAKUT; Kallman syndrome; Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700
Publications for gene: ANOS1 were set to
Gene: anos1 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: ANOS1.
gene: ANOS1 was added gene: ANOS1 was added to Paediatric disorders - additional genes. Sources: Other,Expert Review Green Mode of inheritance for gene: ANOS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ANOS1 were set to CAKUT; Kallman syndrome; Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)