Retinal disorders
Gene: MT-ATP6
Comment on list classification: There is ample evidence available for the association of MT-ATP6 gene with retinitis pigmentosa. Hence, this gene can be promoted to green rating in the next GMS review.Created: 17 Apr 2024, 6:31 p.m. | Last Modified: 17 Apr 2024, 6:31 p.m.
Panel Version: 4.86
Pathogenic variants in MT-ATP6 gene cause NARP syndrome. The canonical phenotypic features of this syndrome include proximal muscle weakness, axonal neuropathy, cerebellar ataxia, and retinitis pigmentosa. Noncanonical phenotypic features in NARP include epilepsy, cerebral or cerebellar atrophy, optic atrophy, cognitive impairment, dementia, sleep apnea syndrome, hearing impairment, renal insufficiency, and diabetes. So far, 10 pathogenic variants in MT-ATP6 have been associated with NARP, NARP-like syndrome, or NARP/maternally inherited Leigh overlap syndrome. Most pathogenic MT-ATP6 variants are missense, but a few truncating pathogenic variants have been reported. The most common variant responsible for NARP is the transversion m.8993T>G. Only symptomatic treatment for NARP syndrome is available. In most of the cases, patients die prematurely. Patients with late-onset NARP survive longer.Created: 17 Apr 2024, 6:27 p.m. | Last Modified: 17 Apr 2024, 6:27 p.m.
Panel Version: 4.83
Mode of inheritance
MITOCHONDRIAL
Phenotypes
NARP syndrome, MONDO:0010794
Publications
The m.8993T>G p.(L156R) variant, usually heteroplasmic, causes retinal dystrophy with or without neuropathy or ataxia. A number of simplex cases have been solved in Genomics England and NIHR. They are often non-syndromic. This should be GREEN.
First published in 1990 by NHNN. PMID 2137962Created: 20 Feb 2024, 2:52 p.m. | Last Modified: 20 Feb 2024, 2:52 p.m.
Panel Version: 4.64
Mode of inheritance
MITOCHONDRIAL
Phenotypes
retinal dystrophy; macular dystrophy; retinitis pigmentosa; neuropathy; ataxia.
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
Tag Q2_24_NHS_review tag was added to gene: MT-ATP6.
Tag gene-checked tag was added to gene: MT-ATP6.
Gene: mt-atp6 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: MT-ATP6 were changed from Retinitis pigmentosa to NARP syndrome, MONDO:0010794
Publications for gene: MT-ATP6 were set to
Tag Q2_24_promote_green tag was added to gene: MT-ATP6.
Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Source NHS GMS was added to MT-ATP6.
Model of inheritance for gene MT-ATP6 was changed to MITOCHONDRIAL
MT-ATP6 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red
MT-ATP6 was created by ellenmcdonagh