LIG3

DNA ligase 3
OMIM: 600940, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green LIG3 in Gastrointestinal neuromuscular disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.23	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes gut dysmotility spasticity ataxia repetitive behaviours neurogenic bladder macular degeneration leukoencephalopathy cerebellar atrophy mitochondrial DNA depletion
Green LIG3 in White matter disorders and cerebral calcification - narrow panel Version 3.35 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes gut dysmotility spasticity ataxia repetitive behaviours neurogenic bladder macular degeneration leukoencephalopathy cerebellar atrophy mitochondrial DNA depletion
Amber LIG3 in Ataxia and cerebellar anomalies - narrow panel Version 4.59 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Phenotypes gut dysmotility spasticity ataxia repetitive behaviours neurogenic bladder macular degeneration leukoencephalopathy cerebellar atrophy mitochondrial DNA depletion Tags watchlist
Green LIG3 in Adult onset leukodystrophy Version 3.24 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes gut dysmotility spasticity ataxia repetitive behaviours neurogenic bladder macular degeneration leukoencephalopathy cerebellar atrophy mitochondrial DNA depletion
Green LIG3 in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.180	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes gut dysmotility spasticity ataxia repetitive behaviours neurogenic bladder macular degeneration leukoencephalopathy cerebellar atrophy mitochondrial DNA depletion
Green LIG3 in Mitochondrial DNA maintenance disorder Version 3.6 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes gut dysmotility spasticity ataxia repetitive behaviours neurogenic bladder macular degeneration leukoencephalopathy cerebellar atrophy mitochondrial DNA depletion
Green LIG3 in Possible mitochondrial disorder - nuclear genes Version 3.105 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes gut dysmotility spasticity ataxia repetitive behaviours neurogenic bladder macular degeneration leukoencephalopathy cerebellar atrophy mitochondrial DNA depletion
Green LIG3 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 4.168 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes gut dysmotility spasticity ataxia repetitive behaviours neurogenic bladder macular degeneration leukoencephalopathy cerebellar atrophy mitochondrial DNA depletion
Amber LIG3 in Retinal disorders Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.89 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Phenotypes gut dysmotility spasticity ataxia repetitive behaviours neurogenic bladder macular degeneration leukoencephalopathy cerebellar atrophy mitochondrial DNA depletion Tags watchlist
Green LIG3 in Paediatric pseudo-obstruction syndrome Version 1.5 Latest signed off version: v1.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial DNA depletion syndrome 20 (MNGIE type), OMIM:619780