Leukodystrophy - adult onset
Gene: LIG3
Seven individuals from three unrelated families and functional data, variable ages of onset from early childhood to late adolescence.
Sources: LiteratureCreated: 27 Apr 2021, 5:19 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780
Publications
Phenotypes for gene: LIG3 were changed from gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy to Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780
Gene: lig3 has been classified as Green List (High Evidence).
Gene: lig3 has been classified as Green List (High Evidence).
gene: LIG3 was added gene: LIG3 was added to Leukodystrophy - adult onset. Sources: Literature 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 Review for gene: LIG3 was set to GREEN