LIG3

PanelMode of inheritanceDetails
6 panels
R-numbers: R62
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
gut dysmotility, spasticity, ataxia, repetitive behaviours, neurogenic bladder, macular degeneration, leukoencephalopathy, cerebellar atrophy, mitochondrial DNA depletion
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
gut dysmotility, spasticity, ataxia, repetitive behaviours, neurogenic bladder, macular degeneration, leukoencephalopathy, cerebellar atrophy, mitochondrial DNA depletion
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
R-numbers: R438
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 20 (MNGIE type), OMIM:619780
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
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
gut dysmotility, spasticity, ataxia, repetitive behaviours, neurogenic bladder, macular degeneration, leukoencephalopathy, cerebellar atrophy, mitochondrial DNA depletion