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COVID-19 research

Gene: ERCC6L2

Green List (high evidence)

ERCC6L2 (ERCC excision repair 6 like 2)
EnsemblGeneIds (GRCh38): ENSG00000182150
EnsemblGeneIds (GRCh37): ENSG00000182150
OMIM: 615667, Gene2Phenotype
ERCC6L2 is in 10 panels

4 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Comment on list classification: Changed Red to Green from external review comment and further publications to support gene-disease association
Created: 6 Jul 2018, 11:56 a.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): ERCC6L2 .PanelApp HGNC gene symbol check: ERCC6L2 . IUIS Disease: ERCC6L2 (Hebo deficiency) . IUIS Inheritance: AR .T cells: Decreased or normal,, .B cells: Low, .IUIS Other affected cells: N/A. IUIS Associated features: Facial dysmorphism, microcephaly, bone marrow failure. IUIS Major category: Combined immunodeficiencies with associated or syndromic features. IUIS Subcategory: DNA Repair Defects other than those listed in Table 1
Created: 6 Jul 2018, 11:51 a.m.

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
bone marrow failure syndrome-2; microcephaly

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Bone marrow failure syndrome 2, 615715
  • Combined immunodeficiencies with associated or syndromic features
  • Facial dysmorphism, microcephaly, bone marrow failure
OMIM
615667
Clinvar variants
Variants in ERCC6L2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: ERCC6L2 was added gene: ERCC6L2 was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC6L2 were set to 27185855; 24507776 Phenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, 615715; Combined immunodeficiencies with associated or syndromic features; Facial dysmorphism, microcephaly, bone marrow failure