Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: ERCC6L2
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
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 associationCreated: 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 1Created: 6 Jul 2018, 11:51 a.m.
Source NHS GMS was added to ERCC6L2.
Source North West GLH was added to ERCC6L2.
Source London North GLH was added to ERCC6L2.
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.
Mode of inheritance for gene: ERCC6L2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: ercc6l2 has been classified as Green List (High Evidence).
Gene: ercc6l2 has been classified as Green List (High Evidence).
Gene: ercc6l2 has been classified as Amber List (Moderate Evidence).
Publications for gene: ERCC6L2 were set to 24507776; 27185855
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
Phenotypes for gene ERCC6L2 were set to Facial dysmorphism, microcephaly, bone marrow failure, Combined immunodeficiencies with associated or syndromic features
ERCC6L2 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
ERCC6L2 was created by Louise Daugherty