Aminoacidopathy
Gene: MPST
MPST (mercaptopyruvate sulfurtransferase)
EnsemblGeneIds (GRCh38): ENSG00000128309
EnsemblGeneIds (GRCh37): ENSG00000128309
OMIM: 602496, Gene2Phenotype
MPST is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000128309
EnsemblGeneIds (GRCh37): ENSG00000128309
OMIM: 602496, Gene2Phenotype
MPST is in 2 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
No reported individuals with deficiency in MPST enzymatic activity.
No known disease relationship classification given by ClinGen Aminoacidopathy GCEP on
28/04/2023 - https://search.clinicalgenome.org/CCID:005413
Sources: ClinGenCreated: 19 Jun 2024, 5:49 a.m.
Mode of inheritance
Unknown
Phenotypes
encephalopathy due to beta-mercaptolactate-cysteine disulfiduria MONDO:0009585
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- encephalopathy due to beta-mercaptolactate-cysteine disulfiduria MONDO:0009585
- OMIM
- 602496
- Clinvar variants
- Variants in MPST
- Penetrance
- None
- Panels with this gene
History Filter Activity
16 Jul 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mpst has been classified as Red List (Low Evidence).
16 Jul 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mpst has been classified as Red List (Low Evidence).
19 Jun 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: MPST was added gene: MPST was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: MPST was set to Unknown Phenotypes for gene: MPST were set to encephalopathy due to beta-mercaptolactate-cysteine disulfiduria MONDO:0009585 Review for gene: MPST was set to RED