Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: ERCC6L2

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

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

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.

Created: 6 Jul 2018, 11:51 a.m.

Panel version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
bone marrow failure syndrome-2; microcephaly

Publications

Created: 29 Jun 2018, 8:30 p.m.

Panel version: 0.1371

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
North West GLH
London North GLH
Expert Review Green
IUIS Classification February 2018

Phenotypes

Bone marrow failure syndrome 2, 615715
Facial dysmorphism, microcephaly, bone marrow failure
Combined immunodeficiencies with associated or syndromic features

OMIM

615667

Clinvar variants

Variants in ERCC6L2

Penetrance

None

Publications

Panels with this gene