1. Panels
  2. TEST Undiagnosed metabolic disorders
  3. OPLAH
Genes in panel
Prev Next

TEST Undiagnosed metabolic disorders

Gene: OPLAH

Amber List (moderate evidence)
OPLAH (5-oxoprolinase, ATP-hydrolysing)
EnsemblGeneIds (GRCh38): ENSG00000178814
EnsemblGeneIds (GRCh37): ENSG00000178814
OMIM: 614243, Gene2Phenotype
OPLAH is in 3 panels

0 reviews

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Literature
  • Radboud University Medical Center, Nijmegen
  • Expert Review Amber
OMIM
614243
Clinvar variants
Variants in OPLAH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Aug 2019, Gel status: 2

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

Sarah Leigh (Genomics England Curator)

gene: OPLAH was added gene: OPLAH was added to TEST Undiagnosed metabolic disorders. Sources: Expert Review Amber,Radboud University Medical Center, Nijmegen,Literature Mode of inheritance for gene: OPLAH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: OPLAH were set to 27477828; 27604308; 21651516; 23430506