Palmoplantar keratoderma and erythrokeratodermas

Gene: TAT

Green List (high evidence)

TAT (tyrosine aminotransferase)
EnsemblGeneIds (GRCh38): ENSG00000198650
EnsemblGeneIds (GRCh37): ENSG00000198650
OMIM: 613018, Gene2Phenotype
TAT is in 10 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
  • Other
Phenotypes
  • Tyrosinemia, type II, 276600
  • KERATOSIS PALMOPLANTARIS WITH CORNEAL DYSTROPHY
  • palmoplantar hyperkeratosis
OMIM
613018
Clinvar variants
Variants in TAT
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Apr 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

Promoted to Version 1, April 11th 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.

3 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

3 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

10 Jan 2017, Gel status: 2

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Amber List (Moderate Evidence).

5 Jan 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

TAT was created by rfoulger

5 Jan 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

TAT was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Other