Paediatric disorders - additional genes
Gene: ANOS1

ANOS1 (anosmin 1)
EnsemblGeneIds (GRCh38): ENSG00000011201
EnsemblGeneIds (GRCh37): ENSG00000011201
OMIM: 300836, Gene2Phenotype
ANOS1 is in 7 panels

3 reviews

Sarah Leigh (Genomics England Curator)

The 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

Created: 10 Mar 2022, 3:53 p.m.
Last Modified: 10 Mar 2022, 3:53 p.m.
Panel version: 1.96

Arina Puzriakova (Genomics England Curator)

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

Created: 19 Oct 2020, 11:14 a.m.
Last Modified: 19 Oct 2020, 11:14 a.m.
Panel version: 1.56

Rebecca Foulger (Genomics England curator)

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

Created: 12 May 2020, 3:57 p.m.
Last Modified: 12 May 2020, 8:17 p.m.
Panel version: 1.29

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green
Other

Phenotypes

CAKUT
Kallman syndrome
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700

OMIM

300836

Clinvar variants

Variants in ANOS1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

10 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: ANOS1.

10 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to ANOS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

19 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: anos1 has been classified as Amber List (Moderate Evidence).

14 May 2020, Gel status: 3