Monogenic short stature
Gene: LIG4

LIG4 (DNA ligase 4)
EnsemblGeneIds (GRCh38): ENSG00000174405
EnsemblGeneIds (GRCh37): ENSG00000174405
OMIM: 601837, Gene2Phenotype
LIG4 is in 13 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that this gene was outside the scope of this clinical indication. Therefore demoted gene from Green to Red.
Created: 30 May 2019, 9:49 a.m.

Created: 30 May 2019, 9:49 a.m.

Copied from panel: Growth failure in early childhood v3.81

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red

Phenotypes

LIG4 syndrome, OMIM:606593
microcephaly, growth retardation, immunodeficiency, developmental delay

OMIM

601837

Clinvar variants

Variants in LIG4

Penetrance

None

Publications

Panels with this gene

History Filter Activity

7 Aug 2024, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: LIG4 were changed from microcephaly, growth retardation, immunodeficiency, developmental delay to LIG4 syndrome, OMIM:606593; microcephaly, growth retardation, immunodeficiency, developmental delay

26 Mar 2024, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: LIG4 was added gene: LIG4 was added to Monogenic short stature. Sources: Expert Review Red Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIG4 were set to 11779494; 16088910 Phenotypes for gene: LIG4 were set to microcephaly, growth retardation, immunodeficiency, developmental delay

Monogenic short stature Gene: LIG4