Ataxia and cerebellar anomalies - childhood onset
Gene: TTPA
TTPA (alpha tocopherol transfer protein)
EnsemblGeneIds (GRCh38): ENSG00000137561
EnsemblGeneIds (GRCh37): ENSG00000137561
OMIM: 600415, Gene2Phenotype
TTPA is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000137561
EnsemblGeneIds (GRCh37): ENSG00000137561
OMIM: 600415, Gene2Phenotype
TTPA is in 11 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Ataxia with isolated vitamin E deficiency
- Ataxia with Vitamin E Deficiency
- OMIM
- 600415
- Clinvar variants
- Variants in TTPA
- Penetrance
- None
- Panels with this gene
-
- Hereditary neuropathy or pain disorder
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- Undiagnosed metabolic disorders
- Ataxia and cerebellar anomalies - childhood onset
- Neurodegenerative disorders, adult onset
- Hereditary ataxia, adult onset
- Hereditary ataxia
- Retinal disorders
- Likely inborn error of metabolism
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: TTPA was added gene: TTPA was added to Ataxia and cerebellar anomalies - narrow panel. Sources: 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 isolated vitamin E deficiency; Ataxia with Vitamin E Deficiency