Genomics England
GMS Panels
Panels
Genes and Entities

TTPA

alpha tocopherol transfer protein
OMIM: 600415
PanelMode of inheritanceDetails
4 panels
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 7.19
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia with isolated vitamin E deficiency, Ataxia with Vitamin E Deficiency
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 7.11
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia with isolated vitamin E deficiency, Ataxia with Vitamin E Deficiency, Ataxia with isolated vitamin E deficiency, 277460
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 6.163
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia with isolated vitamin E deficiency, OMIM:277460, familial isolated deficiency of vitamin E MONDO:0010188
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 7.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TTP1 deficiency (Other disorders of vitamins and cofactors), Hereditary ataxia