TCN2:Ensemblv115

transcobalamin 2
OMIM: 613441, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green TCN2 in Bone Marrow Failure Level 2: Haematological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Transcobalamin II deficiency, MIM#275350
Green TCN2 in Combined Immunodeficiency Level 2: Immunological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Green 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 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Genetic Health Queensland Expert Review Green Phenotypes Transcobalamin II deficiency, 275350
Green TCN2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Transcobalamin II deficiency, 275350 (3)
Green TCN2 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Transcobalamin II deficiency MIM#275350
Green TCN2 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Transcobalamin II deficiency MIM# 275350 Tags treatable metabolic
Green TCN2 in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Transcobalamin II deficiency MIM#275350
Green TCN2 in Vitamin metabolism disorders Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Literature Expert Review Green Phenotypes Transcobalamin II deficiency, 275350