Intestinal failure or congenital diarrhoea
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
1 review
Eleanor Williams (Genomics England Curator)
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.
Panel Version: 1.48
Also known as MTP. PMID: 10946006 - report variants in MTTP in 4 patients with abetalipoproteinemia. One patient, with a homozygous frameshift mutation had intermittent diarrhea and steatorrhea since birth. PMID: 17275380 - report 7 unrelated Israeli families, four of which are Ashkenazi Jewish. All met the diagnostic criteria for ABL, including characteristic lipoprotein profile, absence of apoprotein B in plasma, and acanthocytosis. All had malabsorption as infants. In 3 of the Ashkenazi Jewish families the same homozygous nonsense variant in MTTP was found (p.G865X), the other family had a different variant (p.H737fsX9). The other 3 families had different variants (1 affecting a splice site, p.K103X, and a 481 kb deletion encompassing MTTP and 8 other genes).Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.
Panel Version: 1.48
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Abetalipoproteinemia, OMIM:200100
- OMIM
- 157147
- Clinvar variants
- Variants in MTTP
- Penetrance
- None
- Panels with this gene
-
- Hereditary neuropathy
- Intestinal failure or congenital diarrhoea
- Intellectual disability
- Adult onset neurodegenerative disorder
- Retinal disorders
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Familial hypercholesterolaemia
- Ataxia and cerebellar anomalies - narrow panel
- Structural eye disease
- Hereditary ataxia
- Hereditary neuropathy or pain disorder
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
8 Mar 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: MTTP was added gene: MTTP was added to Intestinal failure. 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, OMIM:200100