IUGR and IGF abnormalities

Gene: LIG1

Red List (low evidence)

LIG1 (DNA ligase 1)
EnsemblGeneIds (GRCh38): ENSG00000105486
EnsemblGeneIds (GRCh37): ENSG00000105486
OMIM: 126391, Gene2Phenotype
LIG1 is in 3 panels

3 reviews

Peter Clayton (University of Manchester)

Green List (high evidence)

Philip Murray (University of Manchester)

Green List (high evidence)

emma baple (Genomics England Curator)

Comment when marking as ready: Only a single patient reported
Created: 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