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Mendeliome

Gene: ANXA5

Amber List (moderate evidence)

ANXA5 (annexin A5)
EnsemblGeneIds (GRCh38): ENSG00000164111
EnsemblGeneIds (GRCh37): ENSG00000164111
OMIM: 131230, Gene2Phenotype
ANXA5 is in 1 panel

1 review

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 17339269 - haplotype found to result in 2- to 4- fold higher risk of pregnancy loss, and reduction in ANXA5 promoter activity.

PMID: 12665588 - mouse K/O shown to have no change. Mice were viable, fertile, with no significant alterations in the biochemical parameters characteristic for metabolic or functional defects.

PMID: 34878150 - enrichment of the ANXA5 haplotype in women with recurrent pregnancy loss. Functional studies demonstrated a reduction in ANXA5 gene expression and protein.
Created: 6 May 2022, 4:32 a.m. | Last Modified: 6 May 2022, 4:32 a.m.
Panel Version: 0.13865

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
{Pregnancy loss, recurrent, susceptibility to, 3} MIM#614391

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • {Pregnancy loss, recurrent, susceptibility to, 3} MIM#614391
OMIM
131230
Clinvar variants
Variants in ANXA5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 May 2022, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: anxa5 has been classified as Amber List (Moderate Evidence).

10 May 2022, Gel status: 2

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: ANXA5 were changed from to {Pregnancy loss, recurrent, susceptibility to, 3} MIM#614391

10 May 2022, Gel status: 2

Set publications

Elena Savva (Victorian Clinical Genetics Services)

Publications for gene: ANXA5 were set to

10 May 2022, Gel status: 2

Set mode of inheritance

Elena Savva (Victorian Clinical Genetics Services)

Mode of inheritance for gene: ANXA5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

10 May 2022, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: anxa5 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ANXA5 was added gene: ANXA5 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ANXA5 was set to Unknown