Photosensitivity Syndromes
Gene: PPOX
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
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 ReviewCreated: 22 Jul 2020, 2:21 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Porphyria variegata (MIM#176200)
Publications
Publications for gene: PPOX were set to 12357337; 32247286; 23324528
Mode of inheritance for gene: PPOX was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: ppox has been classified as Green List (High Evidence).
Gene: ppox has been classified as Green List (High Evidence).
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