Palmoplantar keratoderma and erythrokeratodermas

Gene: TAT

Green List (high evidence)

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.