Likely inborn error of metabolism
Gene: TTPA

TTPA (alpha tocopherol transfer protein)
EnsemblGeneIds (GRCh38): ENSG00000137561
EnsemblGeneIds (GRCh37): ENSG00000137561
OMIM: 600415, Gene2Phenotype
TTPA is in 11 panels

2 reviews

Catherine Snow (Genomics England)

Green List (high evidence)

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Promoted from Amber to Green associated with relevant phenotype in OMIM but no information in Gen2Phen. There are >3 unrelated cases listed on OMIM. Therefore, enough evidence for this gene to be promoted to Green status.
Created: 14 Oct 2019, 1:33 p.m. | Last Modified: 14 Oct 2019, 1:33 p.m.

Panel Version: 1.351

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ataxia with isolated vitamin E deficiency, 277460

Publications

26981194

Created: 14 Oct 2019, 1:33 p.m.
Last Modified: 14 Oct 2019, 1:33 p.m.
Panel version: 1.351

Sarah Leigh (Genomics England Curator)

Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2:04 p.m.

Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hereditary ataxia

Created: 6 Jan 2017, 2:04 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.15

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
London North GLH
NHS GMS

Phenotypes

TTP1 deficiency (Other disorders of vitamins and cofactors)
Hereditary ataxia

OMIM

600415

Clinvar variants

Variants in TTPA

Penetrance

None

Publications

Panels with this gene