Activity
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7 actions
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| Likely inborn error of metabolism v1.346 | TCN2 | Catherine Snow Added comment: Comment on publications: There are >3 unrelated cases reported in the literature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.346 | TCN2 | Catherine Snow Publications for gene: TCN2 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.346 | TCN2 | Catherine Snow Classified gene: TCN2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.346 | TCN2 | Catherine Snow Gene: tcn2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.345 | TCN2 | Catherine Snow reviewed gene: TCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19373259; Phenotypes: Transcobalamin II deficiency, 275350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.47 | TCN2 |
Ivone Leong Source NHS GMS was added to TCN2. Source London North GLH was added to TCN2. |
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| Likely inborn error of metabolism v0.4 | TCN2 |
Ellen McDonagh gene: TCN2 was added gene: TCN2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCN2 were set to 27604308 Phenotypes for gene: TCN2 were set to Congenital neutropaenia; Intellectual disability; A- or hypo-gammaglobulinaemia; Agranulocytosis; Combined B and T cell defect; SCID; Transcobalamin II deficiency (Disorders of cobalamin absorption, transport and metabolism) |
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