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Retinal disorders v4.89 MT-ATP6 Achchuthan Shanmugasundram Tag Q2_24_NHS_review tag was added to gene: MT-ATP6.
Retinal disorders v4.86 MT-ATP6 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: MT-ATP6.
Retinal disorders v4.86 MT-ATP6 Achchuthan Shanmugasundram Classified gene: MT-ATP6 as Amber List (moderate evidence)
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.
Retinal disorders v4.86 MT-ATP6 Achchuthan Shanmugasundram Gene: mt-atp6 has been classified as Amber List (Moderate Evidence).
Retinal disorders v4.85 MT-ATP6 Achchuthan Shanmugasundram Phenotypes for gene: MT-ATP6 were changed from Retinitis pigmentosa to NARP syndrome, MONDO:0010794
Retinal disorders v4.84 MT-ATP6 Achchuthan Shanmugasundram Publications for gene: MT-ATP6 were set to
Retinal disorders v4.83 MT-ATP6 Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: MT-ATP6.
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
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
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.
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.
Retinal disorders v1.159 MT-ATP6 Gavin Arno reviewed gene: MT-ATP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.137 MT-ATP6 Ivone Leong Source NHS GMS was added to MT-ATP6.