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COVID-19 research

Gene: TCN2

Green List (high evidence)

TCN2 (transcobalamin 2)
EnsemblGeneIds (GRCh38): ENSG00000185339
EnsemblGeneIds (GRCh37): ENSG00000185339
OMIM: 613441, Gene2Phenotype
TCN2 is in 12 panels

9 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): TCN2 .PanelApp HGNC gene symbol check: TCN2 . IUIS Disease: Transcobalamin 2 deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: Variable, .IUIS Other affected cells: N/A. IUIS Associated features: Megaloblastic anemia, pancytopenia, if untreated for prolonged periods results in intellectual disability. IUIS Major category: Combined immunodeficiencies with associated or syndromic features. IUIS Subcategory: Defects of Vitamin B12 and Folate Metabolism
Created: 2 Jul 2018, 10:35 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: TCN2, PanelApp HGNC gene symbol check: TCN2, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Other well defined PIDs / Defects of Vitamin B12 and Folate metabolism / Defects of Vitamin B12 and Folate metabolism; Predominantly antibody disorders / Hypogammaglobulinemias / Transcobalamin II deficiency
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: TCN2, GRID_Gene_Symbol: TCN2, GRID_Transcript_ENS_Community submitted: ENST00000215838, GRID_Transcript_RefSeq: NM_000355.2, GRID_Transcript_ENS_used_on_Production: ENST00000215838
Created: 17 Apr 2018, 12:12 p.m.

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: two green expert reviews and many publications
Created: 10 May 2016, 12:42 p.m.

William Rae (University Hospital Southampton NHS Foundation Trust)

Green List (high evidence)

emma baple (South West GMC)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Transcobalamin II deficiency; can have a presentation similar to severe combined immunodeficiency; pancytopenia; neutropenic colitis; Agammaglobulinemia; megaloblastic bone marrow; thrombocytopenia; neutropenia; failure to thrive; hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow.

Publications

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Gene added by a reviewer, and rated green by two reviewers. Ready for Version 1.
Created: 17 Dec 2015, 10:58 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Transcobalamin-2 precursor
  • Transcobalamin II deficiency
  • Agammaglobulinemia
  • Megaloblastic anemia, pancytopenia, if untreated for prolonged periods results in intellectual disability
  • pancytopenia
  • Transcobalamin II deficiency, 275350
  • neutropenic colitis
  • Defects of Vitamin B12 and Folate metabolism
  • megaloblastic bone
  • can have a presentation similar to severe combined immunodeficiency
  • Combined immunodeficiencies with associated or syndromic features
OMIM
613441
Clinvar variants
Variants in TCN2
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: TCN2 was added gene: TCN2 was added to Viral susceptibility. Sources: Expert Review Green,Agranulocytosis v1.3,Combined B and T cell defect v1.12,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,Congenital neutropaenia v1.22,GRID V2.0,NHS GMS,London North GLH,A- or hypo-gammaglobulinaemia v1.25,SCID v1.6,IUIS Classification February 2018 Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCN2 were set to 20352340; 24305960; 7849710; 7980584; 18956254 Phenotypes for gene: TCN2 were set to Transcobalamin-2 precursor; Transcobalamin II deficiency; Agammaglobulinemia; Megaloblastic anemia, pancytopenia, if untreated for prolonged periods results in intellectual disability; pancytopenia; Transcobalamin II deficiency, 275350; neutropenic colitis; Defects of Vitamin B12 and Folate metabolism; megaloblastic bone; can have a presentation similar to severe combined immunodeficiency; Combined immunodeficiencies with associated or syndromic features