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CAKUT

Gene: ANOS1

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

5 reviews

Eleanor Williams (Genomics England Curator)

Comment 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
Created: 5 Nov 2019, 1:52 p.m.
Last Modified: 5 Nov 2019, 1:52 p.m.
Panel version: 1.40

Helen Stuart (University of Manchester)

Green List (high evidence)

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

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Louise Daugherty (Genomics England Curator)

added new-gene-name tag, new symbol is ANOS1
Created: 27 Feb 2017, 1:55 p.m.
Created: 9 Dec 2016, 1:05 p.m.

Panel version: 1.1

Ellen McDonagh (Genomics England Curator)

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.
Created: 22 Apr 2016, 11:46 a.m.

Panel version: 0.90

Adrian Woolf (Professor of Paediatric Scicence, Univerisity of Manchester)

Green List (high evidence)

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)

Created: 22 Apr 2016, 11:43 a.m.

Panel version: 0.89

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Kallman syndrome
  • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)
OMIM
300836
Clinvar variants
Variants in ANOS1
Penetrance
Complete
Panels with this gene

History Filter Activity

5 Nov 2019, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

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

5 Nov 2017, Gel status: 4

Changed Gene Name

GEL ()

KAL1 was changed to ANOS1

5 Nov 2017, Gel status: 4

Removed Tag

GEL ()

new-gene-name was removed from KAL1. Panel: CAKUT

22 Apr 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for KAL1 were set to Kallman syndrome; Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)

22 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 Apr 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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)

22 Apr 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

16 Oct 2015, Gel status: 0

Added New Source

Helen Stuart (University of Manchester)

KAL1 was added to CAKUTpanel. Sources: Expert Review