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  3. LIG3
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Leukodystrophy - adult onset

Gene: LIG3

Green List (high evidence)
LIG3 (DNA ligase 3)
EnsemblGeneIds (GRCh38): ENSG00000005156
EnsemblGeneIds (GRCh37): ENSG00000005156
OMIM: 600940, Gene2Phenotype
LIG3 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Seven individuals from three unrelated families and functional data, variable ages of onset from early childhood to late adolescence.
Sources: Literature
Created: 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

Created: 27 Apr 2021, 5:19 a.m.

Panel version: 0.101

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780
OMIM
600940
Clinvar variants
Variants in LIG3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lig3 has been classified as Green List (High Evidence).

27 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lig3 has been classified as Green List (High Evidence).

27 Apr 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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