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Additional findings_Paediatric

Gene: CPOX

Red List (low evidence)

CPOX (coproporphyrinogen oxidase)
EnsemblGeneIds (GRCh38): ENSG00000080819
EnsemblGeneIds (GRCh37): ENSG00000080819
OMIM: 612732, Gene2Phenotype
CPOX is in 6 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Coproporphyria
OMIM
612732
Clinvar variants
Variants in CPOX
Penetrance
None
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CPOX was added gene: CPOX was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: CPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CPOX were set to Coproporphyria