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STRs in panel
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Primary immunodeficiency

Gene: ERCC3

Red List (low evidence)

ERCC3 (ERCC excision repair 3, TFIIH core complex helicase subunit)
EnsemblGeneIds (GRCh38): ENSG00000163161
EnsemblGeneIds (GRCh37): ENSG00000163161
OMIM: 133510, Gene2Phenotype
ERCC3 is in 15 panels

2 reviews

Sophie Hambleton (Newcastle University)

Red List (low evidence)

not linked to immunodeficiency as far as I am aware
Created: 29 Jun 2018, 1:47 p.m.

Louise Daugherty (Genomics England Curator)

Trichothiodystrophy / XP: DNA repair - short, microcephaly, delay, ectodermal features with photosensitivity. Omim 2 sibs in a consang family Jan 17 - amber association, relevant phenotype?)
Created: 26 Sep 2019, 3:52 p.m. | Last Modified: 26 Sep 2019, 3:52 p.m.
Panel Version: 1.130
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 only enough evidence to rate this gene Red
Created: 26 Sep 2019, 2:54 p.m. | Last Modified: 26 Sep 2019, 2:54 p.m.
Panel Version: 1.127
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 only enough evidence to rate this gene Red
Created: 26 Sep 2019, 2:54 p.m. | Last Modified: 26 Sep 2019, 2:54 p.m.
Panel Version: 1.127
Genes with discrepant ratings (PID 100K vs sumbmitted LNGLH submitted Immunology lists)--agreed rating in webex call 28 March 2019
Created: 26 Sep 2019, 2:53 p.m. | Last Modified: 26 Sep 2019, 2:53 p.m.
Panel Version: 1.127
Comment on list classification: Changed from Amber to Red until more info on gene and disease association, request evidences / immunological association of this gene from Victorian Clinical Genetics Services. Gene not present on any other PID related panels or within ESID or IUIS classifications
Created: 3 Jul 2018, 10:37 a.m.
Comment on list classification: This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list from Victorian Clinical Genetics Services. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1. No disorder or MOI was listed in the submitted list.
Created: 26 Jun 2018, 12:46 p.m.

History Filter Activity

26 Sep 2019, Gel status: 1

Added New Source, Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to ERCC3. Source Victorian Clinical Genetics Services was added to ERCC3.

17 Sep 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ERCC3 were changed from MASP2 deficiency 613791; Mannan-binding lectin serine protease (MASP) deficiency; Pyogenic infections, inflammatory lung disease, autoimmunity; Complement Deficiencies to none

17 Sep 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ERCC3 were set to 24658431

17 Sep 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ERCC3 were set to

17 Sep 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ERCC3 were changed from to MASP2 deficiency 613791; Mannan-binding lectin serine protease (MASP) deficiency; Pyogenic infections, inflammatory lung disease, autoimmunity; Complement Deficiencies

17 Sep 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: ERCC3 was changed from to BIALLELIC, autosomal or pseudoautosomal

17 Sep 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to ERCC3.

17 Sep 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ERCC3.

17 Sep 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ERCC3 was added gene: ERCC3 was added to Primary immunodeficiency. Sources: North West GLH Mode of inheritance for gene: ERCC3 was set to