Aminoacidopathy
Gene: TAT
TAT (tyrosine aminotransferase)
EnsemblGeneIds (GRCh38): ENSG00000198650
EnsemblGeneIds (GRCh37): ENSG00000198650
OMIM: 613018, Gene2Phenotype
TAT is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000198650
EnsemblGeneIds (GRCh37): ENSG00000198650
OMIM: 613018, Gene2Phenotype
TAT is in 9 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Well reported gene-disease association with affected individuals having reports of a deficiency in hepatic tyrosine aminotransferase (TAT).
Classified Definitive by Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:006320
Sources: ClinGenCreated: 18 Jul 2024, 1:27 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
tyrosinemia type II MONDO:0010160
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- tyrosinemia type II MONDO:0010160
- OMIM
- 613018
- Clinvar variants
- Variants in TAT
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
18 Jul 2024, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tat has been classified as Green List (High Evidence).
18 Jul 2024, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tat has been classified as Green List (High Evidence).
18 Jul 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: TAT was added gene: TAT was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAT were set to 9544843; 16917729 Phenotypes for gene: TAT were set to tyrosinemia type II MONDO:0010160 Review for gene: TAT was set to GREEN