Aminoacidopathy
Gene: OPLAHEnsemblGeneIds (GRCh38): ENSG00000178814
EnsemblGeneIds (GRCh37): ENSG00000178814
OMIM: 614243, Gene2Phenotype
OPLAH is in 3 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Variants have been reported in individuals however it appears that this inborn error of glutathione metabolism appears to be of benign nature.
Sources: OtherCreated: 18 Jul 2024, 7:14 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
5-oxoprolinase deficiency MONDO:0009825; Disorders of glutathione metabolism
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- 5-oxoprolinase deficiency MONDO:0009825
- Disorders of glutathione metabolism
- OMIM
- 614243
- Clinvar variants
- Variants in OPLAH
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: oplah has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: oplah has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: OPLAH was added gene: OPLAH was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: OPLAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OPLAH were set to 27477828; 27604308 Phenotypes for gene: OPLAH were set to 5-oxoprolinase deficiency MONDO:0009825; Disorders of glutathione metabolism Review for gene: OPLAH was set to RED