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Gene: TAT

Green List (high evidence)

Also known as Richner-Hanhart syndrome, causes palmoplantar keratoderma, keratitis with photophobia and variable cognitive impairment.

HGNC approved symbol/name: TAT
Is the phenotype(s) severe and onset <18yo? Y
Known technical challenges? N
Gene reported in >3 independent families

Created: 7 Feb 2025, 2:03 a.m. | Last Modified: 7 Feb 2025, 2:03 a.m.

Panel Version: 1.1460

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Tyrosinaemia, type II, MIM# 276600, MONDO:0010160

Publications

• 28255985

Green List (high evidence)

PMID 28255985: reports 15 patients and reviews published data on 128. 2 patients presented with severe cognitive impairment. Among patients diagnosed between ages 5 and 13 years, 75% had neurologic symptoms.

Created: 26 Aug 2022, 6:26 a.m. | Last Modified: 26 Aug 2022, 6:26 a.m.

Panel Version: 0.162

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Tyrosinaemia, type II, MIM# 276600

Publications

• 28255985

I don't know

Well established gene-disease association. Also known as Richner-Hanhart syndrome, the clinical hallmarks consist of a triad of painful palmoplantar keratoderma, keratitis with photophobia and variable mental impairment.

RHS shows inter and intrafamilial phenotypic variability. Phenotype variability observed even among individuals sharing the same pathogenic variant.
Sources: Literature

Created: 26 Jul 2022, 3:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Tyrosinemia, type II (MIM#276600)

Publications

• 16574453