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  2. Monogenic short stature
  3. LIG1
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Monogenic short stature

Gene: LIG1

Red List (low evidence)
LIG1 (DNA ligase 1)
EnsemblGeneIds (GRCh38): ENSG00000105486
EnsemblGeneIds (GRCh37): ENSG00000105486
OMIM: 126391, Gene2Phenotype
LIG1 is in 4 panels

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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
None
Publications
Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: LIG1 was added gene: LIG1 was added to Monogenic short stature. Sources: Expert Review Red Mode of inheritance for gene: LIG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIG1 were set to 1581963; 1351188 Phenotypes for gene: LIG1 were set to immunodeficiency, sun sensitivity, growth reatrdation