Genomics England

LIG3

DNA ligase 3

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Adult onset leukodystrophy R-numbers: R62 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes gut dysmotility, spasticity, ataxia, repetitive behaviours, neurogenic bladder, macular degeneration, leukoencephalopathy, cerebellar atrophy, mitochondrial DNA depletion
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes gut dysmotility, spasticity, ataxia, repetitive behaviours, neurogenic bladder, macular degeneration, leukoencephalopathy, cerebellar atrophy, mitochondrial DNA depletion
Green in Mitochondrial DNA maintenance disorder R-numbers: R352 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes gut dysmotility, spasticity, ataxia, repetitive behaviours, neurogenic bladder, macular degeneration, leukoencephalopathy, cerebellar atrophy, mitochondrial DNA depletion
Green in Paediatric pseudo-obstruction syndrome R-numbers: R438 Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 20 (MNGIE type), OMIM:619780
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BIALLELIC, autosomal or pseudoautosomal	Phenotypes gut dysmotility, spasticity, ataxia, repetitive behaviours, neurogenic bladder, macular degeneration, leukoencephalopathy, cerebellar atrophy, mitochondrial DNA depletion
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes gut dysmotility, spasticity, ataxia, repetitive behaviours, neurogenic bladder, macular degeneration, leukoencephalopathy, cerebellar atrophy, mitochondrial DNA depletion