Ichthyosis and erythrokeratoderma

Gene: TAT

Green List (high evidence)

TAT (tyrosine aminotransferase)
EnsemblGeneIds (GRCh38): ENSG00000198650
EnsemblGeneIds (GRCh37): ENSG00000198650
OMIM: 613018, Gene2Phenotype
TAT is in 9 panels

2 reviews

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Discussed with Helen Brittain, who supports Green rating.
Created: 3 Apr 2017, 9:30 a.m.
Comment on list classification: Updated rating from Amber to Green following discussion with Helen Brittain: Sufficient cases to support inclusion and PPK is a reliable feature of Tyrosinemia type II (OMIM:276600). Helen notes that if the intellectual disability is prominent, they are more likely to be recruited in a different category.
Created: 3 Apr 2017, 9:29 a.m.
Comment on list classification: Updated rating from Red to Amber: TAT is a confirmed DD gene for 'Tyrosinemia Type 2' (OMIM:276600) with >3 cases of TAT variants causing OMIM:276600. Palmoplantar hyperkeratosis is a phenotype of OMIM:276600.
Created: 10 Jan 2017, 4:35 p.m.
Tyrosinemia type II (OMIM:276600) is an autosomal recessive disorder characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels (Source = OMIM). TAT is a confirmed DD gene for 'Tyrosinemia Type 2' (OMIM:276600).
Created: 10 Jan 2017, 9:08 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • palmoplantar hyperkeratosis
  • KERATOSIS PALMOPLANTARIS WITH CORNEAL DYSTROPHY
  • Tyrosinemia, type II, 276600
OMIM
613018
Clinvar variants
Variants in TAT
Penetrance
None
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: TAT was added gene: TAT was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TAT were set to palmoplantar hyperkeratosis; KERATOSIS PALMOPLANTARIS WITH CORNEAL DYSTROPHY; Tyrosinemia, type II, 276600