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Fetal anomalies

Gene: LIG4

Green List (high evidence)
LIG4 (DNA ligase 4)
EnsemblGeneIds (GRCh38): ENSG00000174405
EnsemblGeneIds (GRCh37): ENSG00000174405
OMIM: 601837, Gene2Phenotype
LIG4 is in 18 panels

4 reviews

Santosh Varughese (University of Melbourne)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
LIG4 SYNDROME; MULTIPLE MYELOMA, RESISTANCE TO

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 22 May 2024, 10:48 a.m.
Last Modified: 22 May 2024, 10:48 a.m.
Panel version: 1.245

Daniel Flanagan (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 32534991. Consanguineous family where three siblings presenting with antenatal growth retardation, microcephaly, severe renal anomalies and skeletal abnormalities, including radial ray defects. Biallelic truncating mutation identified.

Autosomal recessive disorder characterised by microcephaly, growth and/or developmental delay, pancytopaenia, and various skin abnormalities. Cell lines show pronounced radiosensitivity. At least 7 unrelated families reported, mouse model.
Created: 8 Nov 2021, 1:48 a.m. | Last Modified: 8 Nov 2021, 1:48 a.m.
Panel Version: 0.152

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
LIG4 syndrome, MIM#606593

Publications

Created: 8 Nov 2021, 1:48 a.m.
Last Modified: 8 Nov 2021, 1:48 a.m.
Panel version: 0.152

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

This is a phenotypically heterogeneous condition with clinical presentation varying from lymphoreticular malignancies in developmentally normal individuals to significant microcephaly, primordial dwarfism, radiation hypersensitivity, severe combined immunodeficiency and early mortality.

More than 15 unrelated individuals reported.
Created: 29 Mar 2021, 1 a.m. | Last Modified: 29 Mar 2021, 1 a.m.
Panel Version: 0.565

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
LIG4 syndrome, MIM# 606593

Publications

Created: 29 Mar 2021, 1 a.m.
Last Modified: 29 Mar 2021, 1 a.m.
Panel version: Imported from Microcephaly panel version 0.565

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

This gene causes an immunodeficiency, and developmental and growth delay syndrome. Cannot find any evidence that cataract is a feature of the condition.
Created: 15 Apr 2020, 1:50 a.m. | Last Modified: 15 Apr 2020, 1:50 a.m.
Panel Version: 0.110

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
LIG4 syndrome MIM#606593

Created: 15 Apr 2020, 1:50 a.m.
Last Modified: 15 Apr 2020, 1:50 a.m.
Panel version: Imported from Cataract panel version 0.110

History Filter Activity

8 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lig4 has been classified as Green List (High Evidence).

8 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LIG4 were changed from SEVERE COMBINED IMMUNODEFICIENCY AUTOSOMAL RECESSIVE T-CELL-NEGATIVE/B-CELL-NEGATIVE/NK-CELL-POSITIVE WITH SENSITIVITY TO IONIZING RADIATION; LIG4 SYNDROME to LIG4 syndrome, MIM#606593

8 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LIG4 were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LIG4 was added gene: LIG4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIG4 were set to SEVERE COMBINED IMMUNODEFICIENCY AUTOSOMAL RECESSIVE T-CELL-NEGATIVE/B-CELL-NEGATIVE/NK-CELL-POSITIVE WITH SENSITIVITY TO IONIZING RADIATION; LIG4 SYNDROME