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Inborn errors of metabolism

Gene: MTTP

Green List (high evidence)

MTTP (microsomal triglyceride transfer protein)
EnsemblGeneIds (GRCh38): ENSG00000138823
EnsemblGeneIds (GRCh37): ENSG00000138823
OMIM: 157147, Gene2Phenotype
MTTP is in 15 panels

1 review

Louise Daugherty (NIHR BioResource - Rare Diseases Study (NIHRBR-RD), University of Cambridge & NHS Blood and Transplant)

Green List (high evidence)

Abetalipoproteinemia (ABL) is characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol. Many unrelated cases (more than 3) that link at least 10 variants of MTTP to Abetalipoproteinemia (PMID: 8361539, 8361539, 10446076, 10946006, 17275380 ). Note that in PMID 27578136 (2016) report the case of two cousins, one presenting classical symptoms of abetalipoproteinemia (hmz for c.1867+1G>A) and one presenting a much attenuated phenotype (compound htz for c.1867+1G>A and p.R450C) report suggests that ABL can present itself with a very incomplete clinical penetrance. PMID 16721486 reports protective phenotype {Metabolic syndrome, protection against} 605552 associated with monoallelic variant rs3816873. On Radboud MOVEMENT DISORDERS panel.
Created: 23 Feb 2017, 5:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Abetalipoproteinemia, 200100; (ACANTHOCYTOSIS, BASSEN-KORNZWEIG SYNDROME, MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY, MTP DEFICIENCY)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Abetalipoproteinemia, 200100
  • (ACANTHOCYTOSIS, BASSEN-KORNZWEIG SYNDROME, MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY, MTP DEFICIENCY)
  • Familial abetalipoproteinaemia (Inherited hypolipidaemias)
OMIM
157147
Clinvar variants
Variants in MTTP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to MTTP. Source London North GLH was added to MTTP.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: MTTP was added gene: MTTP was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTTP were set to 27604308 Phenotypes for gene: MTTP were set to Abetalipoproteinemia, 200100; (ACANTHOCYTOSIS, BASSEN-KORNZWEIG SYNDROME, MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY, MTP DEFICIENCY); Familial abetalipoproteinaemia (Inherited hypolipidaemias)