Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: PANX1EnsemblGeneIds (GRCh38): ENSG00000110218
EnsemblGeneIds (GRCh37): ENSG00000110218
OMIM: 608420, Gene2Phenotype
PANX1 is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two unrelated families with balletic variants, some functional data. Four with mono-allelic variants. However, clinical presentation is with infertility rather than POI/POF.Created: 11 Dec 2020, 5:57 a.m. | Last Modified: 4 Oct 2021, 7:05 a.m.
Panel Version: 0.195
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Oocyte maturation defect 7, MIM# 618550
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Genetic Health QLD
- Phenotypes
-
- Oocyte maturation defect 7, MIM# 618550
- OMIM
- 608420
- Clinvar variants
- Variants in PANX1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: panx1 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PANX1 were changed from to Oocyte maturation defect 7, MIM# 618550
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PANX1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: PANX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)gene: PANX1 was added gene: PANX1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD Mode of inheritance for gene: PANX1 was set to Unknown