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Intellectual disability

Gene: TCN2

Green List (high evidence)

TCN2 (transcobalamin 2)
EnsemblGeneIds (GRCh38): ENSG00000185339
EnsemblGeneIds (GRCh37): ENSG00000185339
OMIM: 613441, Gene2Phenotype
TCN2 is in 10 panels

4 reviews

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : NA
Created: 27 Jul 2017, 8:40 p.m.

Mode of inheritance
Unknown

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Three reviewers agree this should be green.
Created: 23 Feb 2016, 2:04 p.m.
Comment on mode of inheritance: Confirmed on G2P and OMIM.
Created: 23 Feb 2016, 12:21 p.m.

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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.
OMIM
613441
Clinvar variants
Variants in TCN2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

23 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Feb 2016, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for TCN2 was changed to BIALLELIC, autosomal or pseudoautosomal

4 Jan 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TCN2 was added to Intellectual disabilitypanel. Sources: Literature

4 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TCN2 was created by ellenmcdonagh