Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: ANTXR1

Red List (low evidence)

ANTXR1 (anthrax toxin receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000169604
EnsemblGeneIds (GRCh37): ENSG00000169604
OMIM: 606410, Gene2Phenotype
ANTXR1 is in 10 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Premature ovarian insufficiency has been reported in at least 5 cases with GAPO syndrome from 4 families, but only one individual had been genetically confirmed to have an ANTXR1 pathogenic variant.
Sources: Literature
Created: 25 Nov 2021, 10:59 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
GAPO syndrome MIM#230740

Publications

History Filter Activity

25 Nov 2021, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: antxr1 has been classified as Red List (Low Evidence).

25 Nov 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ANTXR1 was added gene: ANTXR1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANTXR1 were set to 34794894; 27426988; 16272061; 2248288; 17262136 Phenotypes for gene: ANTXR1 were set to GAPO syndrome MIM#230740 Review for gene: ANTXR1 was set to RED