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Newborns main panel

Gene: PPOX

Green List (high evidence)
PPOX (protoporphyrinogen oxidase)
EnsemblGeneIds (GRCh38): ENSG00000143224
EnsemblGeneIds (GRCh37): ENSG00000143224
OMIM: 600923, Gene2Phenotype
PPOX is in 14 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
homozyous or compound het in children PMID: 24073655 - 1 case PMID: 16433813 - 1 case PMID: 35164799 - 1 case and review of 15 cases from literature
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

History Filter Activity

6 Feb 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PPOX were changed from Porphyria variegata to Homozygous Variegate Porphyria

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Porphyria variegata for gene: PPOX

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to PPOX. Added phenotypes Porphyria variegata for gene: PPOX Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to PPOX. Mode of inheritance for gene PPOX was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Porphyria variegata for gene: PPOX Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

9 May 2023, Gel status: 1

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Red was added to PPOX. Added phenotypes Porphyria variegata for gene: PPOX Rating Changed from No List (delete) to Red List (low evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Porphyria variegata for gene: PPOX

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: PPOX was added gene: PPOX was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown