TAT

tyrosine aminotransferase
OMIM: 613018, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green TAT in Palmoplantar Keratoderma and Erythrokeratoderma


Level 2: Dermatological disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Tyrosinemia, type II (MIM#276600)
Tags
  • treatable

Green TAT in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Tyrosinemia, type II

Green TAT in Miscellaneous Metabolic Disorders


Level 2: Metabolic disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Tyrosinemia, type II, MIM# 276600
Tags
  • treatable

Green TAT in Prepair 1000+


Level 2: Screening
Version 3.0

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Tyrosinemia, type II (MIM#276600)

Green TAT in Aminoacidopathy


Level 2: Metabolic disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • tyrosinemia type II MONDO:0010160

Green TAT in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BeginNGS
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Tyrosinemia, type II, MIM#276600
Tags
  • treatable
  • metabolic

Green TAT in Prepair 500+


Level 2: Screening
Version 3.0

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Literature
  • Expert Review Green
Phenotypes
  • Tyrosinaemia, type II, MIM# 276600, MONDO:0010160