Cytopenia - NOT Fanconi anaemia

Gene: LIG4

Red List (low evidence)

LIG4 (DNA ligase 4)
EnsemblGeneIds (GRCh38): ENSG00000174405
EnsemblGeneIds (GRCh37): ENSG00000174405
OMIM: 601837, Gene2Phenotype
LIG4 is in 12 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. YNEGLH noted it was syndromic.
Created: 22 Jul 2019, 2:13 p.m. | Last Modified: 22 Jul 2019, 2:13 p.m.
Panel Version: 0.110
Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LIG4; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 606593 LIG4 syndrome; PMID(s): 16088910; 11779494; 20133615
Created: 8 Feb 2019, 1:43 p.m.

Frances Smith (King's College Hospital)

Green List (high evidence)

Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.
Created: 8 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
606593 LIG4 syndrome

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

22 Jul 2019, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

8 Feb 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to LIG4. Rating Changed from Red List (low evidence) to Green List (high evidence)

8 Feb 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene LIG4 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 606593 LIG4 syndrome for gene: LIG4

8 Feb 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes 606593 LIG4 syndrome for gene: LIG4 Publications for gene LIG4 were changed from to 20133615; 16088910; 11779494

8 Feb 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to LIG4.

8 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: LIG4 was added gene: LIG4 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH Mode of inheritance for gene: LIG4 was set to