Intestinal failure or congenital diarrhoea
Gene: MTTPThis 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
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