17 Apr 2024
Retinal disorders v4.89
MT-ATP6
Achchuthan Shanmugasundram Tag Q2_24_NHS_review tag was added to gene: MT-ATP6.
17 Apr 2024
Retinal disorders v4.86
MT-ATP6
Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: MT-ATP6.
17 Apr 2024
Retinal disorders v4.86
MT-ATP6
Achchuthan Shanmugasundram Classified gene: MT-ATP6 as Amber List (moderate evidence)
17 Apr 2024
Retinal disorders v4.86
MT-ATP6
Achchuthan Shanmugasundram Added comment: 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.
17 Apr 2024
Retinal disorders v4.86
MT-ATP6
Achchuthan Shanmugasundram Gene: mt-atp6 has been classified as Amber List (Moderate Evidence).
17 Apr 2024
Retinal disorders v4.85
MT-ATP6
Achchuthan Shanmugasundram Phenotypes for gene: MT-ATP6 were changed from Retinitis pigmentosa to NARP syndrome, MONDO:0010794
17 Apr 2024
Retinal disorders v4.84
MT-ATP6
Achchuthan Shanmugasundram Publications for gene: MT-ATP6 were set to
17 Apr 2024
Retinal disorders v4.83
MT-ATP6
Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: MT-ATP6.
17 Apr 2024
Retinal disorders v4.83
MT-ATP6
Achchuthan Shanmugasundram reviewed gene: MT-ATP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 11843698, 17568559, 19124644, 22819295, 23266623, 24118886, 27015314, 29054413, 29224958, 36809201; Phenotypes: NARP syndrome, MONDO:0010794; Mode of inheritance: MITOCHONDRIAL
20 Feb 2024
Retinal disorders v4.64
MT-ATP6
Andrew Webster reviewed gene: MT-ATP6: Rating: GREEN; Mode of pathogenicity: Other; Publications: PubMed: 8095070, 33600551, 8476414; Phenotypes: retinal dystrophy, macular dystrophy, retinitis pigmentosa, neuropathy, ataxia.; Mode of inheritance: MITOCHONDRIAL
18 Oct 2023
Retinal disorders v4.36
MT-ATP6
Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
12 Sep 2023
Retinal disorders v4.24
MT-ATP6
Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
30 Aug 2019
Retinal disorders v1.159
MT-ATP6
Gavin Arno reviewed gene: MT-ATP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
03 Apr 2019
Retinal disorders v1.137
MT-ATP6
Ivone Leong Source NHS GMS was added to MT-ATP6.