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Inborn errors of metabolism

Gene: TAT

Green List (high evidence)

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

2 reviews

Catherine Snow (Genomics England)

Green List (high evidence)

Comment on publications: PMID: 28255985 Reports on 106 families, represented by 143 individuals, carrying a total of 36 genetic variants. Variants include large deletions, non‐synonymous and nonsense amino‐acid changes, frameshifts and
splice variants.
Created: 8 Oct 2019, 1:20 p.m. | Last Modified: 8 Oct 2019, 1:20 p.m.
Panel Version: 1.345
Comment on list classification: Promoted from Amber to Green. This gene is associated with a relevant disease on OMIM and Gene2Phenotype and there is enough evidence to support a gene-disease association.

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Created: 8 Oct 2019, 1:17 p.m. | Last Modified: 8 Oct 2019, 1:17 p.m.
Panel Version: 1.342

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Sarah Leigh (Genomics England Curator)

Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2:03 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Intellectual disability
  • Tyrosinaemia type II (Disorders of phenylalanine or tyrosine metabolism)
OMIM
613018
Clinvar variants
Variants in TAT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Oct 2019, Gel status: 3

Set publications

Catherine Snow (Genomics England)

Publications for gene: TAT were set to 27604308; 28255985

8 Oct 2019, Gel status: 3

Set publications

Catherine Snow (Genomics England)

Publications for gene: TAT were set to 27604308; 28255985

8 Oct 2019, Gel status: 3

Set publications

Catherine Snow (Genomics England)

Publications for gene: TAT were set to 27604308

8 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: tat has been classified as Green List (High Evidence).

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TAT. Source London North GLH was added to TAT.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: TAT was added gene: TAT was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAT were set to 27604308 Phenotypes for gene: TAT were set to Intellectual disability; Tyrosinaemia type II (Disorders of phenylalanine or tyrosine metabolism)