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Cataract

Gene: LIG4

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

2 reviews

Santosh Varughese (University of Melbourne)

Red List (low 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, 10:10 a.m.
Last Modified: 22 May 2024, 10:10 a.m.
Panel version: 0.366

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: 0.110

History Filter Activity

15 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: lig4 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LIG4 was added gene: LIG4 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LIG4 was set to Unknown