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Syndromic Retinopathy

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)

Retinal degeneration is a key characteristic.
Created: 12 Oct 2020, 2:07 a.m. | Last Modified: 12 Oct 2020, 2:07 a.m.
Panel Version: 0.122

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Abetalipoproteinemia, MIM# 200100

Created: 12 Oct 2020, 2:07 a.m.
Last Modified: 12 Oct 2020, 2:07 a.m.
Panel version: 0.122

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.

12 Oct 2020, 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).

12 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Oct 2020, 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

7 Feb 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

gene: MTTP was added gene: MTTP was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: MTTP was set to Unknown