Retinal disorders
Gene: MTTPEnsemblGeneIds (GRCh38): ENSG00000138823
EnsemblGeneIds (GRCh37): ENSG00000138823
OMIM: 157147, Gene2Phenotype
MTTP is in 15 panels
3 reviews
Ivone Leong (Genomics England Curator)
The 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
Zornitza Stark (Australian Genomics)
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
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
retinopathy associated?Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Abetalipoproteinemia, OMIM:200100, MONDO:0008692
- OMIM
- 157147
- Clinvar variants
- Variants in MTTP
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Intestinal failure or congenital diarrhoea
- Structural eye disease
- Adult onset neurodegenerative disorder
- Intellectual disability
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
- Familial hypercholesterolaemia
- Hereditary ataxia with onset in adulthood
- Hereditary ataxia
- Glaucoma (developmental)
History Filter Activity
Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: MTTP.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to MTTP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: mttp has been classified as Amber List (Moderate Evidence).
Added Tag
Ivone Leong (Genomics England Curator)Tag for-review tag was added to gene: MTTP.
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: MTTP was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: MTTP were changed from Eye Disorders to Abetalipoproteinemia, OMIM:200100, MONDO:0008692
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to MTTP.
Created
Ellen McDonagh (Genomics England Curator)MTTP was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)MTTP was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red