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  3. MTTP
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Congenital Diarrhoea

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Abetalipoproteinemia and familial hypobetalipoproteinemia (FBHL) are characterised by hypocholesterolaemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common.

Well established gene-disease association.
Created: 4 Jan 2021, 11:26 p.m. | Last Modified: 4 Jan 2021, 11:26 p.m.
Panel Version: 0.30

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Abetalipoproteinemia, MIM# 200100

Publications

Created: 4 Jan 2021, 11:26 p.m.
Last Modified: 4 Jan 2021, 11:26 p.m.
Panel version: 0.30

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Abetalipoproteinemia, MIM# 200100
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.

4 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MTTP were changed from Abetalipoproteinemia, MIM# 200100 to Abetalipoproteinemia, MIM# 200100

4 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MTTP were changed from to Abetalipoproteinemia, MIM# 200100

4 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MTTP were set to

4 Jan 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MTTP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MTTP was added gene: MTTP was added to Congenital Diarrhoea_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MTTP was set to Unknown