Retinal disorders
Gene: MTTPThe rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:06 a.m.
Panel Version: 2.243
Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases listed in OMIM. There is enough evidence to support a gene-disease association. This gene should be Green at the next review.Created: 7 Jan 2021, 4:08 p.m. | Last Modified: 7 Jan 2021, 4:08 p.m.
Panel Version: 2.94
Retinal degeneration is a key characteristic of the disorder.Created: 12 Oct 2020, 2:09 a.m. | Last Modified: 12 Oct 2020, 2:09 a.m.
Panel Version: 2.17
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Abetalipoproteinemia, MIM# 200100
retinopathy associated?Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Tag for-review was removed from gene: MTTP.
Source Expert Review Green was added to MTTP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: mttp has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: MTTP.
Mode of inheritance for gene: MTTP was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTTP were changed from Eye Disorders to Abetalipoproteinemia, OMIM:200100, MONDO:0008692
Source NHS GMS was added to MTTP.
MTTP was created by ellenmcdonagh
MTTP was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red