DNA Repair Genes pertinent cancer susceptibility
Gene: LIG3EnsemblGeneIds (GRCh38): ENSG00000005156
EnsemblGeneIds (GRCh37): ENSG00000005156
OMIM: 600940, Gene2Phenotype
LIG3 is in 11 panels
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Details
- Sources
-
- Human DNA Repair Genes Database
- Phenotypes
-
- Class: Other BER and strand break joining factors
- Activity: DNA Ligase III
- OMIM
- 600940
- Clinvar variants
- Variants in LIG3
- Penetrance
- Complete
- Panels with this gene
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- Retinal disorders
- Likely inborn error of metabolism
- Mitochondrial DNA maintenance disorder
- Possible mitochondrial disorder - nuclear genes
- Gastrointestinal neuromuscular disorders
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Paediatric pseudo-obstruction syndrome
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset leukodystrophy
- Mitochondrial disorders
History Filter Activity
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Ellen McDonagh: Publication PMID: 28837162 ent
Created
Ellen McDonagh (Genomics England Curator)LIG3 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)LIG3 was added to DNA Repair Genespanel. Sources: Human DNA Repair Genes Database