Miscellaneous Metabolic Disorders
Gene: OPLAHEnsemblGeneIds (GRCh38): ENSG00000178814
EnsemblGeneIds (GRCh37): ENSG00000178814
OMIM: 614243, Gene2Phenotype
OPLAH is in 3 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Appears to be a benign biochemical defectCreated: 7 Feb 2021, 7:03 a.m. | Last Modified: 7 Feb 2021, 7:03 a.m.
Panel Version: 0.287
Characterized as an inborn error of glutathione metabolism, but there is debate as to whether OPLAH deficiency represents a disorder or simply a biochemical condition with no adverse clinical effects because patients lack a consistent clinical picture apart from 5-oxoprolinuria. Clinical features were highly variable and in several sib pairs, did not segregate with 5-oxoprolinuria in 14 families from various backgrounds
Sources: NHS GMSCreated: 7 Feb 2021, 7:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
5-oxoprolinase deficiency MIM#260005; Disorders of the gamma-glutamyl cycle
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- NHS GMS
- Phenotypes
-
- 5-oxoprolinase deficiency MIM#260005
- Disorders of the gamma-glutamyl cycle
- OMIM
- 614243
- Clinvar variants
- Variants in OPLAH
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: oplah has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: oplah has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: oplah has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: OPLAH was added gene: OPLAH was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: OPLAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OPLAH were set to 27604308; 27477828 Phenotypes for gene: OPLAH were set to 5-oxoprolinase deficiency MIM#260005; Disorders of the gamma-glutamyl cycle Review for gene: OPLAH was set to GREEN