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This Panel is marked as Internal

Newborns main panel
Gene: TAT

TAT (tyrosine aminotransferase)
EnsemblGeneIds (GRCh38): ENSG00000198650
EnsemblGeneIds (GRCh37): ENSG00000198650
OMIM: 613018, Gene2Phenotype
TAT is in 8 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

TAT curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.135

Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Tyrosinemia, type II

OMIM

Clinvar variants

Variants in TAT

Penetrance

None

Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Tyrosinemia, type II for gene: TAT

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Tyrosinemia, type II for gene: TAT

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Tyrosinemia, type II for gene: TAT

5 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Tyrosinemia, type II for gene: TAT

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Tyrosinemia, type II for gene: TAT

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: TAT was added gene: TAT was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal