IUGR and IGF abnormalities
Gene: LIG1
LIG1 (DNA ligase 1)
EnsemblGeneIds (GRCh38): ENSG00000105486
EnsemblGeneIds (GRCh37): ENSG00000105486
OMIM: 126391, Gene2Phenotype
LIG1 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000105486
EnsemblGeneIds (GRCh37): ENSG00000105486
OMIM: 126391, Gene2Phenotype
LIG1 is in 4 panels
3 reviews
Peter Clayton (University of Manchester)
Philip Murray (University of Manchester)
emma baple (Genomics England Curator)
Comment when marking as ready: Only a single patient reportedCreated: 25 Apr 2016, 1:46 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- immunodeficiency, sun sensitivity, growth reatrdation
- OMIM
- 126391
- Clinvar variants
- Variants in LIG1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
25 Apr 2016, Gel status: 1
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
25 Apr 2016, Gel status: 1
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
23 Oct 2015, Gel status: 0
Added New Source
Philip Murray (University of Manchester)LIG1 was added to IUGR and IGF abnormalitiespanel. Sources: Literature
23 Oct 2015, Gel status: 0
Created
Philip Murray (University of Manchester)LIG1 was created by PhilMurray