Miscellaneous Metabolic Disorders

Gene: TTPA

Green List (high evidence)

TTPA (alpha tocopherol transfer protein)
EnsemblGeneIds (GRCh38): ENSG00000137561
EnsemblGeneIds (GRCh37): ENSG00000137561
OMIM: 600415, Gene2Phenotype
TTPA is in 13 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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 GMS
Created: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ataxia with isolated vitamin E deficiency MIM#277460
  • disorders of vitamins and cofactors
OMIM
600415
Clinvar variants
Variants in TTPA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ttpa has been classified as Green List (High Evidence).

7 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ttpa has been classified as Green List (High Evidence).

7 Feb 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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