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Mitochondrial disease
Gene: PYROXD2

PYROXD2 (pyridine nucleotide-disulphide oxidoreductase domain 2)
EnsemblGeneIds (GRCh38): ENSG00000119943
EnsemblGeneIds (GRCh37): ENSG00000119943
PYROXD2 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Alternative diagnosis identified in proband, downgrade.
Created: 1 Aug 2023, 4:16 a.m. | Last Modified: 1 Aug 2023, 4:16 a.m.

Panel Version: 0.879

Single individual reported, functional data.
Sources: Literature
Created: 3 Feb 2022, 6:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial disease, MONDO:0044970

Publications

35055180

Created: 3 Feb 2022, 6:57 a.m.

Panel version: 0.879

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Literature

Phenotypes

Mitochondrial disease, MONDO:0044970

Tags

disputed

Clinvar variants

Variants in PYROXD2

Penetrance

None

Publications

35055180

Panels with this gene

History Filter Activity

1 Aug 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pyroxd2 has been classified as Red List (Low Evidence).

1 Aug 2023, Gel status: 2

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: PYROXD2.

3 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pyroxd2 has been classified as Amber List (Moderate Evidence).

3 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pyroxd2 has been classified as Amber List (Moderate Evidence).

3 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pyroxd2 has been classified as Amber List (Moderate Evidence).

3 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pyroxd2 has been classified as Red List (Low Evidence).

3 Feb 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PYROXD2 was added gene: PYROXD2 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: PYROXD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYROXD2 were set to 35055180 Phenotypes for gene: PYROXD2 were set to Mitochondrial disease, MONDO:0044970 Review for gene: PYROXD2 was set to AMBER