Vitamin metabolism disorders
Gene: PRDX1EnsemblGeneIds (GRCh38): ENSG00000117450
EnsemblGeneIds (GRCh37): ENSG00000117450
OMIM: 176763, Gene2Phenotype
PRDX1 is in 3 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Only variants affecting the canonical splice acceptor site of intron 5 (e.g. c.515-1G-T, c.515-2A-T) that cause skipping of exon 6 and the polyA termination signal of PRDX1 produce an MMACHC epimutation. The resulting read-through transcript extends through the adjacent MMACHC locus in the antisense orientation. These PRDX1 exon 6 acceptor splice site variants cause disease through digenic inheritance with a pathogenic MMACHC on the other allele.
Sources: LiteratureCreated: 2 Apr 2024, 10:22 a.m.
Mode of inheritance
Other
Phenotypes
methylmalonic aciduria and homocystinuria type cblC MONDO:0010184
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- methylmalonic aciduria and homocystinuria type cblC MONDO:0010184
- Tags
- OMIM
- 176763
- Clinvar variants
- Variants in PRDX1
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: prdx1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: prdx1 has been classified as Green List (High Evidence).
Added Tag
Bryony Thompson (Royal Melbourne Hospital)Tag digenic tag was added to gene: PRDX1.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Bryony Thompson (Royal Melbourne Hospital)gene: PRDX1 was added gene: PRDX1 was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature Mode of inheritance for gene: PRDX1 was set to Other Publications for gene: PRDX1 were set to 29302025; 35190856 Phenotypes for gene: PRDX1 were set to methylmalonic aciduria and homocystinuria type cblC MONDO:0010184 Mode of pathogenicity for gene: PRDX1 was set to Other Review for gene: PRDX1 was set to GREEN