Retinal disorders
Gene: MT-TL1EnsemblGeneIds (GRCh38): ENSG00000209082
EnsemblGeneIds (GRCh37): ENSG00000209082
OMIM: 590050, Gene2Phenotype
MT-TL1 is in 22 panels
4 reviews
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 26 Sep 2024, 3:50 p.m. | Last Modified: 26 Sep 2024, 3:50 p.m.
Panel Version: 6.7
Mode of inheritance
MITOCHONDRIAL
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.Created: 28 Feb 2024, 7:16 p.m. | Last Modified: 28 Feb 2024, 7:16 p.m.
Panel Version: 4.81
PMID:18332310 reported seven probands with m.3243A>G variant and all of them presented with macular dystrophy. Discontinuous circumferentially distributed and oriented perifoveal atrophy was seen in six probands, while the remaining one had features consistent with a pattern dystrophy.
PMID:23806424 reported 29 patients carrying the m.3243A>G variant, of which 25 had retinal abnormalities.Created: 28 Feb 2024, 7:14 p.m. | Last Modified: 28 Feb 2024, 7:14 p.m.
Panel Version: 4.78
Mode of inheritance
MITOCHONDRIAL
Phenotypes
Retinal dystrophy, HP:0000556; Macular dystrophy, HP:0007754
Publications
Siying Lin (Moorfields Eye Hospital)
The m.3243A>G is well reported to cause a range of phenotypes, including a spectrum of retinal anomalies. The maternal inheritance pattern may not be evident, and systemic disease associations can be variable or even absentCreated: 21 Feb 2024, 2:41 p.m. | Last Modified: 21 Feb 2024, 2:41 p.m.
Panel Version: 4.71
Mode of inheritance
MITOCHONDRIAL
Phenotypes
retinal dystrophy; macular dystrophy; chorioretinal atrophy, MELAS
Publications
Mode of pathogenicity
Other
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
mitochondrialCreated: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Retinal dystrophy, HP:0000556
- Macular dystrophy, HP:0007754
- Tags
- OMIM
- 590050
- Clinvar variants
- Variants in MT-TL1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Mitochondrial disorders
- Retinal disorders
- DDG2P
- Fetal anomalies
- Optic neuropathy
- Fetal hydrops
- Familial diabetes
- Likely inborn error of metabolism
- Hereditary neuropathy or pain disorder
- Multi-organ autoimmune diabetes
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Monogenic hearing loss
- Early onset or syndromic epilepsy
- Undiagnosed metabolic disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Sudden death in young people
- Monogenic diabetes
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag gene-checked tag was added to gene: MT-TL1.
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q1_24_promote_green was removed from gene: MT-TL1. Tag Q1_24_NHS_review was removed from gene: MT-TL1.
Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source Expert Review Green was added to MT-TL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Sarah Leigh (Genomics England Curator)Tag locus-type-rna-transfer tag was added to gene: MT-TL1.
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: mt-tl1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: MT-TL1 were changed from Retinitis pigmentosa to Retinal dystrophy, HP:0000556; Macular dystrophy, HP:0007754
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: MT-TL1 were set to
Added Tag, Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q1_24_promote_green tag was added to gene: MT-TL1. Tag Q1_24_NHS_review tag was added to gene: MT-TL1.
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to MT-TL1.
Created
Ellen McDonagh (Genomics England Curator)MT-TL1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)MT-TL1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red