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Additional findings_Paediatric

Gene: PRX

Green List (high evidence)

PRX (periaxin)
EnsemblGeneIds (GRCh38): ENSG00000105227
EnsemblGeneIds (GRCh37): ENSG00000105227
OMIM: 605725, Gene2Phenotype
PRX is in 7 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease
OMIM
605725
Clinvar variants
Variants in PRX
Penetrance
None
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PRX was added gene: PRX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: PRX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRX were set to Charcot-Marie-Tooth disease