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  3. TTPA
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Syndromic Retinopathy

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

2 reviews

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 Mendeliome panel version Imported from Miscellaneous Metabolic Disorders panel version 0.296

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Ataxia secondary to vitamin E deficiency. Variable age of onset, but paediatric cases reported.
Sources: Expert list
Created: 16 Apr 2020, 7:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ataxia with isolated vitamin E deficiency, MIM# 277460

Created: 16 Apr 2020, 7:25 a.m.

Panel version: Imported from Mendeliome panel version Imported from Ataxia - paediatric panel version 0.62

History Filter Activity

7 Feb 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

gene: TTPA was added gene: TTPA was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: TTPA was set to Unknown