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Fetal anomalies

Gene: TCN2

Red List (low evidence)

TCN2 (transcobalamin 2)
EnsemblGeneIds (GRCh38): ENSG00000185339
EnsemblGeneIds (GRCh37): ENSG00000185339
OMIM: 613441, Gene2Phenotype
TCN2 is in 13 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Post-natal onset. Action taken: Demoted gene rating from Green to Red.
Created: 18 Apr 2019, 11:28 a.m.
DDG2P rating in original PAGE list: Confirmed for Transcobalamin II deficiency
Created: 11 Dec 2018, 9:05 a.m.

History Filter Activity

18 Apr 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to TCN2. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: TCN2 was added gene: TCN2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCN2 were set to Transcobalamin II deficiency