1. Panels
  2. Aminoacidopathy
  3. GSTZ1
STRs in panel
Prev Next
Regions in panel
Prev Next

Aminoacidopathy

Gene: GSTZ1

Red List (low evidence)
GSTZ1 (glutathione S-transferase zeta 1)
EnsemblGeneIds (GRCh38): ENSG00000100577
EnsemblGeneIds (GRCh37): ENSG00000100577
OMIM: 603758, Gene2Phenotype
GSTZ1 is in 1 panel

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

Classified Moderate by ClinGen Aminoacidopathy GCEP on 09/09/2022 -https://search.clinicalgenome.org/CCID:005017

6 probands have been reported with mild hypersuccinylacetonaemia (MHSA). The reported individuals remained well without receiving any treatment or change in diet.
Sources: ClinGen
Created: 6 Jun 2024, 11:43 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
maleylacetoacetate isomerase deficiency MONDO:0060527

Publications

Created: 6 Jun 2024, 11:43 p.m.

Panel version: 1.47

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • maleylacetoacetate isomerase deficiency MONDO:0060527
OMIM
603758
Clinvar variants
Variants in GSTZ1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Jun 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gstz1 has been classified as Red List (Low Evidence).

7 Jun 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gstz1 has been classified as Red List (Low Evidence).

6 Jun 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: GSTZ1 was added gene: GSTZ1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GSTZ1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GSTZ1 were set to 27876694 Phenotypes for gene: GSTZ1 were set to maleylacetoacetate isomerase deficiency MONDO:0060527 Review for gene: GSTZ1 was set to RED