TCN2

transcobalamin 2
OMIM: 613441, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green TCN2 in Bone Marrow Failure Level 2: Haematological disorders Version 1.93	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Transcobalamin II deficiency, MIM#275350
Green TCN2 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Transcobalamin II deficiency, 275350
Green TCN2 in Combined Immunodeficiency Level 2: Immunological disorders Version 1.66 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Transcobalamin II deficiency MIM# 275350 Decreased Ig levels Megaloblastic anaemia pancytopaenia if untreated (B12) for prolonged periods results in intellectual disability failure to thrive diarrhoea hypogammaglobulinaemia pallor hypotonia respiratory infection
Green TCN2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Transcobalamin II deficiency, 275350
Green TCN2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Transcobalamin II deficiency, 275350 (3)
Green TCN2 in Red cell disorders Level 2: Haematological disorders Version 1.24	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Yorkshire and North East GLH NHS GMS Wessex and West Midlands GLH North West GLH London South GLH Phenotypes Transcobalamin II deficiency MIM# 275350 Decreased Ig levels Megaloblastic anaemia pancytopaenia Reticulocytopaenia failure to thrive diarrhoea hypogammaglobulinaemia pallor hypotonia respiratory infection if untreated (B12) for prolonged periods results in intellectual disability
Red TCN2 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Genetic Health Queensland Phenotypes Transcobalamin II deficiency, 275350
Green TCN2 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Transcobalamin II deficiency, 275350 (3)
Green TCN2 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BeginNGS Phenotypes Transcobalamin II deficiency MIM# 275350 Tags treatable metabolic
Green TCN2 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Transcobalamin II deficiency, 275350 (3)
Green TCN2 in Vitamin metabolism disorders Level 2: Metabolic disorders Version 1.6 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Phenotypes Transcobalamin II deficiency, 275350