Inborn errors of metabolismGene: OPLAH
Comment on phenotypes: Oxoprolinuria (Disorders of the gamma-glutamyl cycle)
Created: 19 Aug 2019, 1:40 p.m. | Last Modified: 19 Aug 2019, 1:40 p.m.
Panel Version: 1.203
Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants have been reported. It is not clear whether the mode of inheritance is biallelic or monoallelic as homozygous and heterozygote cases have been seen. The PMID 21651516 reports two sibs who are homozygous for a terminating variant, the younger brother is 5-oxoprolinase deficiency, however, his clinically unaffected sister just has increased 5-oxoproline excretion.
Created: 19 Aug 2019, 1:39 p.m. | Last Modified: 19 Aug 2019, 1:39 p.m.
Panel Version: 1.202
21651516 (1 affected); 23430506 (2 unrelated affecteds), 3 different variants reported- phenotype results in low activity of 5-oxoprolinase. Variants also reported in unaffected subjects, maybe due to phenotypic variablilty. On Radboud MENDELIOME/MCA METABOLIC DISORDERS panel. Omim contacted for clarification of MOI and of gene / phenotype association
Created: 23 Feb 2017, 5:15 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
5-oxoprolinase deficiency, 260005
Phenotypes for gene: OPLAH were changed from Oxoprolinuria (Disorders of the gamma-glutamyl cycle); 5-oxoprolinase deficiency, 260005 to 5-oxoprolinase deficiency 260005
Gene: oplah has been classified as Amber List (Moderate Evidence).
Publications for gene: OPLAH were set to 27604308
Source NHS GMS was added to OPLAH. Source London North GLH was added to OPLAH.
Sarah Leigh: Associated with relevant pheno
gene: OPLAH was added gene: OPLAH was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: OPLAH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: OPLAH were set to 27604308 Phenotypes for gene: OPLAH were set to Oxoprolinuria (Disorders of the gamma-glutamyl cycle); 5-oxoprolinase deficiency, 260005