Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.383 | RNASET2 | Ivone Leong reviewed gene: RNASET2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.47 | RNASET2 |
Ivone Leong Source NHS GMS was added to RNASET2. Source London North GLH was added to RNASET2. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.4 | RNASET2 |
Ellen McDonagh gene: RNASET2 was added gene: RNASET2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASET2 were set to 27604308 Phenotypes for gene: RNASET2 were set to Intellectual disability; RNASET2-deficient cystic leukoencephalopathy (Disorders of nucleotide metabolism); Inherited white matter disorders |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||