Genomics England

LIG3

DNA ligase 3

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Leukodystrophy, adult onset R-numbers: R62 Signed-off version 7.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes gut dysmotility, spasticity, ataxia, repetitive behaviours, neurogenic bladder, macular degeneration, leukoencephalopathy, cerebellar atrophy, mitochondrial DNA depletion
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 20 (MNGIE type), OMIM:619780
Green in Mitochondrial disorders Component of the following Super Panels: - Leukodystrophy, childhood onset Signed-off version 10.18	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 20 (MNGIE type), OMIM:619780
Green in Mitochondrial DNA maintenance disorder R-numbers: R352 Signed-off version 3.10	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 2.7	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 5.17	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 - childhood onset Component of the following Super Panels: - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 8.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 20 (MNGIE type), OMIM:619780