Miscellaneous Metabolic Disorders
Gene: TTPA
Well-established gene-disease association (see OMIM entry). Ataxia with vitamin E deficiency (AVED) is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of vitamin metabolism.
Sources: NHS GMSCreated: 7 Feb 2021, 11:42 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia with isolated vitamin E deficiency MIM#277460; disorders of vitamins and cofactors
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: ttpa has been classified as Green List (High Evidence).
Gene: ttpa has been classified as Green List (High Evidence).
gene: TTPA was added gene: TTPA was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTPA were set to 27604308; 7719340 Phenotypes for gene: TTPA were set to Ataxia with isolated vitamin E deficiency MIM#277460; disorders of vitamins and cofactors Review for gene: TTPA was set to GREEN gene: TTPA was marked as current diagnostic