Vitamin metabolism disorders
Gene: TTPA
TTPA (alpha tocopherol transfer protein)
EnsemblGeneIds (GRCh38): ENSG00000137561
EnsemblGeneIds (GRCh37): ENSG00000137561
OMIM: 600415, Gene2Phenotype
TTPA is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000137561
EnsemblGeneIds (GRCh37): ENSG00000137561
OMIM: 600415, Gene2Phenotype
TTPA is in 13 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review green
- Phenotypes
-
- familial isolated deficiency of vitamin E MONDO:0010188
- Other disorders of vitamin metabolism
- OMIM
- 600415
- Clinvar variants
- Variants in TTPA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Vitamin metabolism disorders
- Regression
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Additional findings_Paediatric
- Prepair 1000+
- Hereditary Neuropathy - complex
- Ataxia - adult onset
- Mendeliome
- BabyScreen+ newborn screening
- Syndromic Retinopathy
- Prepair 500+
- Ataxia - paediatric
History Filter Activity
20 May 2024, 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 Vitamin metabolism disorders. Sources: Expert Review green 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 familial isolated deficiency of vitamin E MONDO:0010188; Other disorders of vitamin metabolism