Ataxia and cerebellar anomalies - childhood onset
Gene: MTTP
MTTP (microsomal triglyceride transfer protein)
EnsemblGeneIds (GRCh38): ENSG00000138823
EnsemblGeneIds (GRCh37): ENSG00000138823
OMIM: 157147, Gene2Phenotype
MTTP is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000138823
EnsemblGeneIds (GRCh37): ENSG00000138823
OMIM: 157147, Gene2Phenotype
MTTP is in 15 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Abetalipoproteinemia, 200100
- OMIM
- 157147
- Clinvar variants
- Variants in MTTP
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Undiagnosed metabolic disorders
- Hereditary ataxia
- Ataxia and cerebellar anomalies - childhood onset
- Retinal disorders
- Likely inborn error of metabolism
- Intestinal failure or congenital diarrhoea
- Familial hypercholesterolaemia
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- Structural eye disease
- Hereditary neuropathy or pain disorder
- Neurodegenerative disorders, adult onset
- Hereditary ataxia, adult onset
- Glaucoma (developmental)
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: MTTP was added gene: MTTP was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTTP were set to Abetalipoproteinemia, 200100