Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: ANTXR1
ANTXR1 (anthrax toxin receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000169604
EnsemblGeneIds (GRCh37): ENSG00000169604
OMIM: 606410, Gene2Phenotype
ANTXR1 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000169604
EnsemblGeneIds (GRCh37): ENSG00000169604
OMIM: 606410, Gene2Phenotype
ANTXR1 is in 10 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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: LiteratureCreated: 25 Nov 2021, 10:59 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GAPO syndrome MIM#230740
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- GAPO syndrome MIM#230740
- OMIM
- 606410
- Clinvar variants
- Variants in ANTXR1
- Penetrance
- None
- Publications
- Panels with this gene
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