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| Erythropoietic protoporphyria, mild variant v1.3 | ALAS2 | Arina Puzriakova Phenotypes for gene: ALAS2 were changed from Anemia, sideroblastic, X-linked, 300751; Protoporphyria, erythropoietic, X-linked, 300752 to Protoporphyria, erythropoietic, X-linked, OMIM:300752 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Erythropoietic protoporphyria, mild variant v1.2 | CLPX |
Aleš Maver gene: CLPX was added gene: CLPX was added to Erythropoietic protoporphyria, mild variant. Sources: Other Mode of inheritance for gene: CLPX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CLPX were set to 28874591 Penetrance for gene: CLPX were set to unknown Mode of pathogenicity for gene: CLPX was set to Other Review for gene: CLPX was set to RED Added comment: Entry is based on a single report (PMID: 28874591) of a novel missense variant in CPLX gene (p.Gly298Asp) in a family with erythropoietic protoporphyria. The mutation is reported to occur in the ATPase active site of human CLPX, p.Gly298Asp, and it stated by authors that it results in pathological accumulation of the heme biosynthesis intermediate protoporphyrin IX (PPIX).Three heterozygous members of the family are reported - the proband is affected, while the two relatives have been reported to have free and zinc-PPIX accumulation in erythrocytes and associated mild photosensitivity, but are without the complete clinical symptoms of EPP. Sources: Other |
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