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BabyScreen+ newborn screening

Gene: TCN2

Green List (high evidence)
TCN2 (transcobalamin 2)
EnsemblGeneIds (GRCh38): ENSG00000185339
EnsemblGeneIds (GRCh37): ENSG00000185339
OMIM: 613441, Gene2Phenotype
TCN2 is in 11 panels

2 reviews

John Christodoulou (Murdoch Children's Research Institute)

Green List (high evidence)

Transcobalamin II deficiency is an autosomal recessive disorder with onset in early infancy characterized by failure to thrive, megaloblastic anemia, and pancytopenia. Other features include recurrent infections, and vomiting and diarrhea. Treatment with cobalamin results in clinical improvement, but the untreated disorder may result in mental retardation and neurologic abnormalities.

Biochemical abnormalities: methylmalonic aciduria/aemia

Treatment with Cyanocobalamin, hydroxycobalamin prevents, halts, or slows clinical deterioration; improves neurological manifestations (incl. neuro-imaging); improves systemic manifestations
Created: 23 Dec 2022, 5:09 a.m. | Last Modified: 23 Dec 2022, 5:09 a.m.
Panel Version: 0.1632

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
failure to thrive; megaloblastic anaemia; recurrent infections; ID; vomiting; diarrhoea

Publications

Created: 23 Dec 2022, 5:09 a.m.
Last Modified: 23 Dec 2022, 5:09 a.m.
Panel version: 0.1632

Seb Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

Established gene-disease association.

Childhood onset, multi-system disorder

Treatment: cobalamin

Non-genetic confirmatory test: serum amino acids, vitamin B12, and methylmalonic acid levels
Created: 20 Dec 2022, 4:45 a.m. | Last Modified: 20 Dec 2022, 4:45 a.m.
Panel Version: 0.1542

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Transcobalamin II deficiency MIM# 275350

Created: 20 Dec 2022, 4:45 a.m.
Last Modified: 20 Dec 2022, 4:45 a.m.
Panel version: 0.1542

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BeginNGS
Phenotypes
  • Transcobalamin II deficiency MIM# 275350
Tags
treatable metabolic
OMIM
613441
Clinvar variants
Variants in TCN2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Dec 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TCN2 were set to

29 Dec 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: TCN2. Tag metabolic tag was added to gene: TCN2.

20 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: tcn2 has been classified as Green List (High Evidence).

20 Dec 2022, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: TCN2 were changed from Transcobalamin II deficiency, 275350 to Transcobalamin II deficiency MIM# 275350

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TCN2 was added gene: TCN2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCN2 were set to Transcobalamin II deficiency, 275350