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Mendeliome

Gene: PANX1

Green List (high evidence)

PANX1 (pannexin 1)
EnsemblGeneIds (GRCh38): ENSG00000110218
EnsemblGeneIds (GRCh37): ENSG00000110218
OMIM: 608420, Gene2Phenotype
PANX1 is in 2 panels

2 reviews

Melanie Marty (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 30918116; 4 unrelated families with female infertility via a phenotype termed "oocyte" death. The variants result in abnormal PANX1 channel activation, altered membrane electrophysiological properties, and aberrant ATP release
in oocytes. Gain of function mechanism was suggested.

PMID: 33495594; 2 unrelated families with homozygous missense variants reported, female infertility associated with oocyte death after fertilization. The homozygous variants altered the PANX1 glycosylation pattern, affected membrane electrophysiological properties, and resulted in mouse oocyte death in vitro. The effect of the two homozygous variants on PANX1 function was weaker than that caused by the reported heterozygous variants. Disease mechanism is not clearly established at this stage.
Created: 4 Oct 2021, 4:48 a.m. | Last Modified: 4 Oct 2021, 4:48 a.m.
Panel Version: 0.9303

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Oocyte maturation defect 7, MIM#618550

Publications

Mode of pathogenicity
Other

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated families, some functional data. Clinical presentation is with infertility.
Sources: Expert list
Created: 11 Dec 2020, 6 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Oocyte maturation defect 7, MIM# 618550

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Oocyte maturation defect 7, MIM# 618550
OMIM
608420
Clinvar variants
Variants in PANX1
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

4 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PANX1 were set to 30918116; 32838805

4 Oct 2021, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: PANX1 was changed from None to Other

4 Oct 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PANX1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

4 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: panx1 has been classified as Green List (High Evidence).

11 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: panx1 has been classified as Amber List (Moderate Evidence).

11 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: panx1 has been classified as Amber List (Moderate Evidence).

11 Dec 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PANX1 was added gene: PANX1 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: PANX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PANX1 were set to 30918116; 32838805 Phenotypes for gene: PANX1 were set to Oocyte maturation defect 7, MIM# 618550 Review for gene: PANX1 was set to AMBER