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Likely inborn error of metabolism v8.94 LIG3 Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: LIG3.
Likely inborn error of metabolism v8.94 LIG3 Achchuthan Shanmugasundram commented on gene: LIG3: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Likely inborn error of metabolism v8.93 LIG3 Achchuthan Shanmugasundram Source Expert Review Green was added to LIG3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v8.30 LIG3 Achchuthan Shanmugasundram Classified gene: LIG3 as Amber List (moderate evidence)
Likely inborn error of metabolism v8.30 LIG3 Achchuthan Shanmugasundram Added comment: Comment on list classification: LIG3 has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/LIG3/).

As there is sufficient evidence available for the gene-disease association, this gene can be promoted to green rating on this panel in the next GMS update.
Likely inborn error of metabolism v8.30 LIG3 Achchuthan Shanmugasundram Gene: lig3 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v8.29 LIG3 Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: LIG3.
Likely inborn error of metabolism v8.29 LIG3 Achchuthan Shanmugasundram Phenotypes for gene: LIG3 were changed from gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy; mitochondrial DNA depletion to Mitochondrial DNA depletion syndrome 20 (MNGIE type), OMIM:619780
Likely inborn error of metabolism v8.28 LIG3 Achchuthan Shanmugasundram Marked gene: LIG3 as ready
Likely inborn error of metabolism v8.28 LIG3 Achchuthan Shanmugasundram Gene: lig3 has been classified as Green List (High Evidence).
Likely inborn error of metabolism v8.28 LIG3 Achchuthan Shanmugasundram reviewed gene: LIG3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 20 (MNGIE type), OMIM:619780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v8.28 LIG3 Achchuthan Shanmugasundram Entity copied from White matter disorders and cerebral calcification - narrow panel v7.2
Likely inborn error of metabolism v8.28 LIG3 Achchuthan Shanmugasundram gene: LIG3 was added
gene: LIG3 was added to Likely inborn error of metabolism. Sources: Expert Review Green,NHS GMS,Literature
Mode of inheritance for gene: LIG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIG3 were set to 33855352
Phenotypes for gene: LIG3 were set to gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy; mitochondrial DNA depletion