Mitochondrial disease
Gene: LIG3EnsemblGeneIds (GRCh38): ENSG00000005156
EnsemblGeneIds (GRCh37): ENSG00000005156
OMIM: 600940, Gene2Phenotype
LIG3 is in 6 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780
John Christodoulou (Murdoch Children's Research Institute)
Three families, each with multiple affected individuals with different biallelic LoF variants.
Solid functional data presented - cell based and zebrafish model
Sources: LiteratureCreated: 27 Apr 2021, 3:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy
Publications
- PMID: 33855352
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780
- OMIM
- 600940
- Clinvar variants
- Variants in LIG3
- Penetrance
- Complete
- Publications
-
- PMID: 33855352
- Panels with this gene
History Filter Activity
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lig3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lig3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
John Christodoulou (Murdoch Children's Research Institute)gene: LIG3 was added gene: LIG3 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: LIG3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIG3 were set to PMID: 33855352 Phenotypes for gene: LIG3 were set to gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy Penetrance for gene: LIG3 were set to Complete Review for gene: LIG3 was set to GREEN