TTPA

alpha tocopherol transfer protein
OMIM: 600415
PanelMode of inheritanceDetails
3 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia with isolated vitamin E deficiency, Ataxia with Vitamin E Deficiency
R-numbers: R54
Signed-off version 2.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia with isolated vitamin E deficiency, Ataxia with Vitamin E Deficiency, Ataxia with isolated vitamin E deficiency, 277460
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
TTP1 deficiency (Other disorders of vitamins and cofactors), Hereditary ataxia