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Primary immunodeficiency

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
  • 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

History Filter Activity

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ERCC6L2.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to ERCC6L2.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to ERCC6L2.

12 Jul 2018, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

9 Jul 2018, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: ERCC6L2 was changed from to BIALLELIC, autosomal or pseudoautosomal

6 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: ercc6l2 has been classified as Green List (High Evidence).

6 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: ercc6l2 has been classified as Green List (High Evidence).

6 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: ercc6l2 has been classified as Amber List (Moderate Evidence).

6 Jul 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ERCC6L2 were set to 24507776; 27185855

6 Jul 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, 615715; Facial dysmorphism, microcephaly, bone marrow failure; Combined immunodeficiencies with associated or syndromic features

1 Jul 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene ERCC6L2 were set to Facial dysmorphism, microcephaly, bone marrow failure, Combined immunodeficiencies with associated or syndromic features

26 Jun 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

ERCC6L2 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018

26 Jun 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

ERCC6L2 was created by Louise Daugherty