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BabyScreen+ newborn screening

Gene: PPOX

Green List (high evidence)

PPOX (protoporphyrinogen oxidase)
EnsemblGeneIds (GRCh38): ENSG00000143224
EnsemblGeneIds (GRCh37): ENSG00000143224
OMIM: 600923, Gene2Phenotype
PPOX is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established gene-disease association.

Bi-allelic variants cause severe, childhood-onset disease whereas mono-allelic variants result in adult onset disease of variable penetrance.

Treatment: hemin

Non-genetic confirmatory testing: plasma porphyrin fluorescence
Created: 4 Oct 2023, 3:02 a.m. | Last Modified: 4 Oct 2023, 3:02 a.m.
Panel Version: 1.83

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Variegate porphyria, childhood-onset, MIM# 620483

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category C gene
Phenotypes
  • Variegate porphyria, childhood-onset, MIM# 620483
Tags
treatable haematological
OMIM
600923
Clinvar variants
Variants in PPOX
Penetrance
None
Panels with this gene

History Filter Activity

4 Oct 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Oct 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PPOX were changed from Porphyria variegata to Variegate porphyria, childhood-onset, MIM# 620483

4 Oct 2023, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: PPOX. Tag haematological tag was added to gene: PPOX.

4 Oct 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PPOX was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal

4 Oct 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Sep 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PPOX was added gene: PPOX was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PPOX were set to Porphyria variegata