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  3. PPOX
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Photosensitivity Syndromes

Gene: PPOX

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants cause childhood onset disease.
Created: 27 Aug 2023, 7:18 a.m. | Last Modified: 27 Aug 2023, 7:18 a.m.
Panel Version: 1.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Variegate porphyria, childhood-onset, MIM# 620483

Publications

Created: 27 Aug 2023, 7:18 a.m.
Last Modified: 27 Aug 2023, 7:18 a.m.
Panel version: 1.5

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Photosensitivity is a feature of the condition.

PMID: 12357337: 7 different variants reported in a cohort of 103 Finnish patients; 40% had photosensitivity. One of the variant, I12T present in gnomad (9 hets)
Sources: Expert Review
Created: 22 Jul 2020, 2:21 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Porphyria variegata (MIM#176200)

Publications

Created: 22 Jul 2020, 2:21 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Porphyria variegata (MIM#176200)
OMIM
600923
Clinvar variants
Variants in PPOX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Aug 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PPOX were set to 12357337; 32247286; 23324528

27 Aug 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, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

22 Jul 2020, 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).

22 Jul 2020, 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).

22 Jul 2020, Gel status: 0

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

Crystle Lee (Victorian Clinical Genetics Services)

gene: PPOX was added gene: PPOX was added to Photosensitivity Syndromes. Sources: Expert Review Mode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPOX were set to 12357337; 32247286; 23324528 Phenotypes for gene: PPOX were set to Porphyria variegata (MIM#176200) Review for gene: PPOX was set to GREEN