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Optic neuropathy v5.28 MT-ND4L Ida Ertmanska Tag technical-limitations tag was added to gene: MT-ND4L.
Optic neuropathy v5.28 MT-ND4L Ida Ertmanska Tag Q2_25_ promote_green was removed from gene: MT-ND4L.
Tag Q2_25_expert_review was removed from gene: MT-ND4L.
Tag Q2_25_ NHS_review was removed from gene: MT-ND4L.
Optic neuropathy v5.28 MT-ND4L Ida Ertmanska commented on gene: MT-ND4L
Optic neuropathy v5.15 MT-ND4L Achchuthan Shanmugasundram Classified gene: MT-ND4L as Amber List (moderate evidence)
Optic neuropathy v5.15 MT-ND4L Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Katherine Schon, there is sufficient evidence available for the association of m.10663T>C variant from MT-ND4L gene with LHON. Hence, this gene can be promoted to green rating in the next GMS update.
Optic neuropathy v5.15 MT-ND4L Achchuthan Shanmugasundram Gene: mt-nd4l has been classified as Amber List (Moderate Evidence).
Optic neuropathy v5.14 MT-ND4L Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: MT-ND4L.
Tag Q2_25_expert_review tag was added to gene: MT-ND4L.
Tag Q2_25_ NHS_review tag was added to gene: MT-ND4L.
Optic neuropathy v5.14 MT-ND4L Achchuthan Shanmugasundram Phenotypes for gene: MT-ND4L were changed from to Leber hereditary optic neuropathy, MONDO:0010788
Optic neuropathy v5.13 MT-ND4L Achchuthan Shanmugasundram Publications for gene: MT-ND4L were set to
Optic neuropathy v5.12 MT-ND4L Achchuthan Shanmugasundram edited their review of gene: MT-ND4L: Changed phenotypes to: Leber hereditary optic neuropathy, MONDO:0010788
Optic neuropathy v5.12 MT-ND4L Achchuthan Shanmugasundram reviewed gene: MT-ND4L: Rating: GREEN; Mode of pathogenicity: None; Publications: 11935318, 22879922, 29210930, 36381806; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Optic neuropathy v5.3 MT-ND4L Katherine Schon reviewed gene: MT-ND4L: Rating: GREEN; Mode of pathogenicity: ; Publications: 29210930, 36381806; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Optic neuropathy v5.2 MT-ND4L Achchuthan Shanmugasundram gene: MT-ND4L was added
gene: MT-ND4L was added to Optic neuropathy. Sources: Literature
Mode of inheritance for gene gene: MT-ND4L was set to MITOCHONDRIAL
Optic neuropathy v4.11 MT-ND4 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND4.
Optic neuropathy v4.11 MT-ND4 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4.
Optic neuropathy v2.68 MT-ND4 Eleanor Williams Tag gene-checked tag was added to gene: MT-ND4.
Optic neuropathy v1.28 MT-ND4 Tom Cullup reviewed gene: MT-ND4: Rating: GREEN; Mode of pathogenicity: ; Publications: 26448634, 20301353, 27159682, 26683077, 23805034, 23665487, 22553750; Phenotypes: Leber's hereditary optic neuropathy; Mode of inheritance: MITOCHONDRIAL
Optic neuropathy v1.27 MT-ND4 Ivone Leong Source London North GLH was added to MT-ND4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Optic neuropathy MT-ND4 Ellen McDonagh edited their review of MT-ND4
Optic neuropathy MT-ND4 Ellen Thomas marked MT-ND4 as ready
Optic neuropathy MT-ND4 Ellen Thomas classified MT-ND4 as green
Optic neuropathy MT-ND4 Ellen Thomas commented on MT-ND4
Optic neuropathy MT-ND4 Ellen McDonagh classified MT-ND4 as amber
Optic neuropathy MT-ND4 Ellen McDonagh commented on MT-ND4