Ichthyosis and erythrokeratodermaGene: TAT
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.
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