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Hereditary Neuropathy - complex

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

Created: 7 Feb 2021, 11:42 p.m.

Panel version: Imported from Miscellaneous Metabolic Disorders panel version 0.296

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ataxia with vitamin E deficiency
  • Early-onset ataxia and sensory axonal neuropathy similar to Friedreich’s ataxia, head titubation, normal fat absorption unlike abetalipoproteinemia, rarely retinitis pigmentosa
OMIM
600415
Clinvar variants
Variants in TTPA
Penetrance
None
Panels with this gene

History Filter Activity

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TTPA was added gene: TTPA was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTPA were set to Ataxia with vitamin E deficiency; Early-onset ataxia and sensory axonal neuropathy similar to Friedreich’s ataxia, head titubation, normal fat absorption unlike abetalipoproteinemia, rarely retinitis pigmentosa