TAT

tyrosine aminotransferase
OMIM: 613018
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TYROSINEMIA TYPE 2 276600
R-numbers: R165
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
palmoplantar hyperkeratosis, KERATOSIS PALMOPLANTARIS WITH CORNEAL DYSTROPHY, Tyrosinemia, type II, 276600
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability, Tyrosinaemia type II (Disorders of phenylalanine or tyrosine metabolism)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tyrosinemia, type II, 276600, TYROSINEMIA TYPE 2 (TYRO2)