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BabyScreen+ newborn screening

Gene: PRDX1

Green List (high evidence)
PRDX1 (peroxiredoxin 1)
EnsemblGeneIds (GRCh38): ENSG00000117450
EnsemblGeneIds (GRCh37): ENSG00000117450
OMIM: 176763, Gene2Phenotype
PRDX1 is in 3 panels

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Digenic inheritance with mutation in other allele of MMACHC
On GUARDIAN and Rx genes list

Recently, three individuals who are double heterozygous for pathogenic variants in MMACHC and PRDX1 have been identified. PRDX1 is a neighboring gene on chromosome 1 transcribed from the reverse strand. Variants identified in PRDX1 located at the intron 5 splice acceptor site caused skipping of exon 6, transcription of antisense MMACHC, and hypermethylation of the MMACHC promoter/exon 1, resulting in no gene expression from that allele [Guéant et al 2018].

Treatable with cobalamin, carnitine & diet. NB MMACHC is green on our list, on newborn screening.
Sources: Expert list
Created: 3 Mar 2023, 8:39 p.m.

Mode of inheritance
Other

Phenotypes
Methylmalonic aciduria and homocystinuria, cblC type, digenic MIM#277400

Publications

Created: 3 Mar 2023, 8:39 p.m.

Panel version: 0.1883

Details

Mode of Inheritance
Other
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type, digenic MIM#277400
Tags
for review
OMIM
176763
Clinvar variants
Variants in PRDX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prdx1 has been classified as Green List (High Evidence).

5 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prdx1 has been classified as Green List (High Evidence).

5 Mar 2023, Gel status: 0

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: PRDX1.

3 Mar 2023, Gel status: 0

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

Lilian Downie (Victorian Clinical Genetics Services)

gene: PRDX1 was added gene: PRDX1 was added to gNBS. Sources: Expert list Mode of inheritance for gene: PRDX1 was set to Other Publications for gene: PRDX1 were set to PMID: 20301503, PMID: 29396438, PMID: 34215320, PMID: 33982424 Phenotypes for gene: PRDX1 were set to Methylmalonic aciduria and homocystinuria, cblC type, digenic MIM#277400 Review for gene: PRDX1 was set to GREEN