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STRs in panel
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COVID-19 research

Gene: CORO1A

Green List (high evidence)

CORO1A (coronin 1A)
EnsemblGeneIds (GRCh38): ENSG00000102879
EnsemblGeneIds (GRCh37): ENSG00000102879
OMIM: 605000, Gene2Phenotype
CORO1A is in 5 panels

6 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
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CORO1A .PanelApp HGNC gene symbol check: CORO1A . IUIS Disease: Coronin-1A deficiency . IUIS Inheritance: AR .T cells: Decreased or normal, responses to PHA may be decreased, .B cells: Normal, .IUIS Other affected cells: N/A. IUIS Associated features: Detectable thymus, EBV. IUIS Major category: Immunodeficiencies affecting cellular and humoral immunity. IUIS Subcategory: T-B+ Severe Combined Immune Deficiency (SCID)
Created: 2 Jul 2018, 10:35 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: Coronin-1A, PanelApp HGNC gene symbol check: CORO1A , ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / Omenn syndrome / Omenn syndrome
Created: 17 Apr 2018, 12:29 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: Coronin-1A, PanelApp HGNC gene symbol check: CORO1A, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / Atypical Severe Combined Immunodeficiency (Atypical SCID) / Atypical Severe Combined Immunodeficiency (Atypical SCID); Combined immunodeficiencies / Severe combined immunodeficiency (SCID) / Severe combined immunodeficiency (SCID)
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: CORO1A, GRID_Gene_Symbol: CORO1A, GRID_Transcript_ENS_Community submitted: ENST00000219150, GRID_Transcript_RefSeq: NM_007074.3, GRID_Transcript_ENS_used_on_Production: ENST00000219150
Created: 17 Apr 2018, 12:12 p.m.

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Added by expert reviewer, and rated green by a second reviewer. Established evidence in OMIM.
Created: 3 Jun 2016, 12:51 p.m.

William Rae (University Hospital Southampton NHS Foundation Trust)

Green List (high evidence)

Phenotypes
hypogammaglobulinaemia, combined immunodeficiency,

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Combined immunodeficiency
  • Immunodeficiency 8
  • hypogammaglobulinaemia, combined immunodeficiency
  • Coronin-1A deficiency
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Detectable thymus, EBV
  • Immunodeficiencies affecting cellular and humoral immunity
  • Omenn syndrome
  • Severe combined immunodeficiency (SCID)
OMIM
605000
Clinvar variants
Variants in CORO1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: CORO1A was added gene: CORO1A was added to Viral susceptibility. Sources: Expert Review Green,Combined B and T cell defect v1.12,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CORO1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CORO1A were set to 23522482; 18836449; 19097825 Phenotypes for gene: CORO1A were set to Combined immunodeficiency; Immunodeficiency 8; hypogammaglobulinaemia, combined immunodeficiency; Coronin-1A deficiency; Atypical Severe Combined Immunodeficiency (Atypical SCID); Detectable thymus, EBV; Immunodeficiencies affecting cellular and humoral immunity; Omenn syndrome; Severe combined immunodeficiency (SCID)