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Inborn errors of metabolism

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

2 reviews

Sarah Leigh (Genomics England Curator)

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

Louise Daugherty (NIHR BioResource - Rare Diseases Study (NIHRBR-RD), University of Cambridge & NHS Blood and Transplant)

gene: OPLAH review by Louise Daugherty

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

Phenotypes
5-oxoprolinase deficiency, 260005

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • 5-oxoprolinase deficiency 260005
OMIM
614243
Clinvar variants
Variants in OPLAH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Aug 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: OPLAH were changed from Oxoprolinuria (Disorders of the gamma-glutamyl cycle); 5-oxoprolinase deficiency, 260005 to 5-oxoprolinase deficiency 260005

19 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: oplah has been classified as Amber List (Moderate Evidence).

19 Aug 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: OPLAH were set to 27604308

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to OPLAH. Source London North GLH was added to OPLAH.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

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