Likely inborn error of metabolism - targeted testing not possible
Gene: TAT
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
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
Publications for gene: TAT were set to 27604308; 28255985
Publications for gene: TAT were set to 27604308; 28255985
Publications for gene: TAT were set to 27604308
Gene: tat has been classified as Green List (High Evidence).
Source NHS GMS was added to TAT. Source London North GLH was added to TAT.
Sarah Leigh: Associated with relevant pheno
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)