Structural eye disease
Gene: MTTP

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

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Abetalipoproteinemia; 200100

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Abetalipoproteinemia, 200100

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.48

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red

Phenotypes

Abetalipoproteinemia, 200100
Eye Disorders

OMIM

157147

Clinvar variants

Variants in MTTP

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to MTTP. Mode of inheritance for gene MTTP was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Abetalipoproteinemia, 200100 for gene: MTTP

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: MTTP was added gene: MTTP was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: MTTP was set to Phenotypes for gene: MTTP were set to Eye Disorders

Structural eye disease Gene: MTTP