Palmoplantar Keratoderma and Erythrokeratoderma
Gene: TAT

TAT (tyrosine aminotransferase)
EnsemblGeneIds (GRCh38): ENSG00000198650
EnsemblGeneIds (GRCh37): ENSG00000198650
OMIM: 613018, Gene2Phenotype
TAT is in 9 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Also known as Richner-Hanhart syndrome,the clinical hallmarks consist of a triad ofpainful palmoplantar keratoderma, keratitis with photophobiaand variable mental impairment

PMID: 31799120;
- 1x Syrian patient from a consanguineous family with focal palmoplantar keratoderma, photophobia, poor vision and ocular pain on the left eye, developmental delay, and ID.
> homozygous for p.(Gly114Ser)

PMID: 21145993;
- 1x Croatian mainly suffering from photophobia, hyperkeratosis of the palmes and soles and slight neurological abnormalities
> homozygous p.(Arg417Gln)

PMID: 18945316;
- 1x patient
> cHet for p.(Pro220Ser) and c.446_447insA; p.(Asp149fs28)
Created: 17 Aug 2020, 4:45 a.m. | Last Modified: 17 Aug 2020, 4:45 a.m.

Panel Version: 0.56

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Tyrosinemia, type II (MIM#276600)

Publications

Created: 17 Aug 2020, 4:45 a.m.
Last Modified: 17 Aug 2020, 4:45 a.m.
Panel version: 0.56

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Tyrosinemia, type II (MIM#276600)

Tags

treatable

OMIM

613018

Clinvar variants

Variants in TAT

Penetrance

None

Publications

Panels with this gene