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Aminoacidopathy v1.137 GSTZ1 Zornitza Stark Publications for gene: GSTZ1 were set to 27876694
Aminoacidopathy v1.136 GSTZ1 Zornitza Stark Classified gene: GSTZ1 as Green List (high evidence)
Aminoacidopathy v1.136 GSTZ1 Zornitza Stark Gene: gstz1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.135 GSTZ1 Lucy Spencer reviewed gene: GSTZ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27876694, 38535121, 41009955; Phenotypes: Maleylacetoacetate isomerase deficiency MIM#617596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Aminoacidopathy v1.57 GSTZ1 Zornitza Stark Marked gene: GSTZ1 as ready
Aminoacidopathy v1.57 GSTZ1 Zornitza Stark Gene: gstz1 has been classified as Red List (Low Evidence).
Aminoacidopathy v1.57 GSTZ1 Zornitza Stark Classified gene: GSTZ1 as Red List (low evidence)
Aminoacidopathy v1.57 GSTZ1 Zornitza Stark Gene: gstz1 has been classified as Red List (Low Evidence).
Aminoacidopathy v1.47 GSTZ1 Sangavi Sivagnanasundram 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
Added comment: 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