Groopman et al 2019 - Genes with diagnostic variants
Gene: ANOS1

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

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: KAL1; Inheritance: X-linked; Clinical diagnosis: Glomerulopathy; Genetic diagnosis: Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1); OMIM phenotype MIM No.: 308700; Number of cases: 1
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.

Panel Version: 0.4

Created: 2 Jul 2019, 9:46 p.m.
Last Modified: 2 Jul 2019, 9:46 p.m.
Panel version: 0.4

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Expert Review Red
Expert review red
Literature

Phenotypes

MIM 308700
Glomerulopathy
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)

OMIM

300836

Clinvar variants

Variants in ANOS1

Penetrance

None

Panels with this gene

History Filter Activity

2 Jul 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source Expert Review Red was added to ANOS1.

2 Jul 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: ANOS1 was added gene: ANOS1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: ANOS1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: ANOS1 were set to MIM 308700; Glomerulopathy; Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)

Groopman et al 2019 - Genes with diagnostic variants Gene: ANOS1