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  3. MTTP
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Dyslipidaemia

Gene: MTTP

Green List (high evidence)
MTTP (microsomal triglyceride transfer protein)
EnsemblGeneIds (GRCh38): ENSG00000138823
EnsemblGeneIds (GRCh37): ENSG00000138823
OMIM: 157147, Gene2Phenotype
MTTP is in 13 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease association(see OMIM entry). is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders) and is an inborn error of lipid metabolism.
Sources: NHS GMS
Created: 8 Feb 2021, 11:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Abetalipoproteinemia MIM#200100; Inherited hypolipidaemias

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 8 Feb 2021, 11:15 p.m.

Panel version: 0.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Abetalipoproteinemia MIM#200100
  • Inherited hypolipidaemias
Tags
treatable
OMIM
157147
Clinvar variants
Variants in MTTP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: MTTP.

8 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mttp has been classified as Green List (High Evidence).

8 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mttp has been classified as Green List (High Evidence).

8 Feb 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MTTP was added gene: MTTP was added to Dyslipidaemia. Sources: NHS GMS Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTTP were set to 27604308; 8533758; 30720493 Phenotypes for gene: MTTP were set to Abetalipoproteinemia MIM#200100; Inherited hypolipidaemias Review for gene: MTTP was set to GREEN gene: MTTP was marked as current diagnostic