Palmoplantar keratoderma and erythrokeratodermas
Gene: 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.
Promoted to Version 1, April 11th 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
TAT was created by rfoulger
TAT was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Other