Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Component of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ataxia with isolated vitamin E deficiency, Ataxia with Vitamin E Deficiency |
R-numbers: R54 Signed-off version 6.0 | 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 Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes TTP1 deficiency (Other disorders of vitamins and cofactors), Hereditary ataxia |