Retinal disorders

Gene: MT-ATP6

Green List (high evidence)

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

Green List (high evidence)

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

• 11843698
• 17568559
• 19124644
• 22819295
• 23266623
• 24118886
• 27015314
• 29054413
• 29224958
• 36809201

Green List (high evidence)

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 2137962

Created: 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

• PubMed: 8095070, 33600551, 8476414

Mode of pathogenicity
Other

I don't know

mitochondrial

Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.

Panel Version: 1.159