Genes in panel
STRs in panel
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Primary immunodeficiency

Gene: COLEC11

Red List (low evidence)

COLEC11 (collectin subfamily member 11)
EnsemblGeneIds (GRCh38): ENSG00000118004
EnsemblGeneIds (GRCh37): ENSG00000118004
OMIM: 612502, Gene2Phenotype
COLEC11 is in 9 panels

2 reviews

Sophie Hambleton (Newcastle University)

Red List (low evidence)

No evident link to immunodeficiency
Created: 11 Jun 2018, 2:59 p.m.

Louise Daugherty (Genomics England Curator)

I don't know

External expert review notes Red status due to no evident link to immunodeficiency, so I have kept this gene Red on this panel
Created: 12 Jun 2018, 12:28 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: COLEC11, PanelApp HGNC gene symbol check: COLEC11, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Complement deficiencies / Complement deficiency / Mannan-binding lectin serine protease (MASP) deficiency
Created: 17 Apr 2018, 12:29 p.m.


  • Expert Review Red
  • ESID Registry 20171117
  • Mannan-binding lectin serine protease (MASP) deficiency
Clinvar variants
Variants in COLEC11
Panels with this gene

History Filter Activity

12 Jul 2018, Gel status: 1

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.

12 Jun 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: colec11 has been classified as Red List (Low Evidence).

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

COLEC11 was added to Primary immunodeficiency disorders panel. Sources: ESID Registry 20171117

17 Apr 2018, Gel status: 1


Louise Daugherty (Genomics England Curator)

COLEC11 was created by Louise Daugherty