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| Mitochondrial DNA maintenance disorder v2.3 | LIG3 | Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: LIG3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v2.3 | LIG3 | Achchuthan Shanmugasundram reviewed gene: LIG3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v2.2 | LIG3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to LIG3. Source NHS GMS was added to LIG3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Mitochondrial DNA maintenance disorder v1.4 | LIG3 | Ivone Leong Entity copied from White matter disorders and cerebral calcification - narrow panel v1.100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v1.4 | LIG3 |
Ivone Leong gene: LIG3 was added gene: LIG3 was added to Mitochondrial DNA maintenance disorder. 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 |
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