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Prepair 1000+

Gene: TAT

Green List (high evidence)

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

3 reviews

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

Crystle Lee (Victorian Clinical Genetics Services)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Tyrosinemia, type II (MIM#276600)
OMIM
613018
Clinvar variants
Variants in TAT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Tyrosinemia, type II (MIM#276600) for gene: TAT

9 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tat has been classified as Green List (High Evidence).

9 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tat has been classified as Green List (High Evidence).

9 Sep 2022, Gel status: 0

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: TAT.

28 Jul 2022, Gel status: 0

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: TAT.

26 Jul 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Crystle Lee (Victorian Clinical Genetics Services)

gene: TAT was added gene: TAT was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAT were set to 16574453 Phenotypes for gene: TAT were set to Tyrosinemia, type II (MIM#276600) Review for gene: TAT was set to AMBER