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Mitochondrial disorders v3.6 LIG3 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: LIG3.
Mitochondrial disorders v3.6 LIG3 Achchuthan Shanmugasundram reviewed gene: LIG3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.5 LIG3 Achchuthan Shanmugasundram Source NHS GMS was added to LIG3.
Source Expert Review Green was added to LIG3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v2.37 LIG3 Ivone Leong Entity copied from White matter disorders and cerebral calcification - narrow panel v1.100
Mitochondrial disorders v2.37 LIG3 Ivone Leong gene: LIG3 was added
gene: LIG3 was added to Mitochondrial disorders. Sources: Expert Review Amber,Literature
Q2_21_rating tags were added to gene: LIG3.
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