Retinal disorders
Gene: MT-TL1
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
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
mitochondrialCreated: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Gene: mt-tl1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: MT-TL1 were changed from Retinitis pigmentosa to Retinal dystrophy, HP:0000556; Macular dystrophy, HP:0007754
Publications for gene: MT-TL1 were set to
Tag Q1_24_promote_green tag was added to gene: MT-TL1. Tag Q1_24_NHS_review tag was added to gene: MT-TL1.
Source NHS GMS was added to MT-TL1.
MT-TL1 was created by ellenmcdonagh
MT-TL1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red