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Likely inborn error of metabolism - targeted testing not possible v1.383 | RBP4 | Ivone Leong Classified gene: RBP4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.383 | RBP4 | Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green. RBP4 is associated with retinoid metabolism on OMIM, but not on Gene2Phenotype. There are >3 unrelated cases listed on OMIM. Therefore, enough evidence for this gene to be promoted to Green status. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.383 | RBP4 | Ivone Leong Gene: rbp4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.265 | RBP4 | Ivone Leong commented on gene: RBP4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.47 | RBP4 |
Ivone Leong Source NHS GMS was added to RBP4. Source London North GLH was added to RBP4. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | RBP4 |
Ellen McDonagh gene: RBP4 was added gene: RBP4 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: RBP4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RBP4 were set to 27604308 Phenotypes for gene: RBP4 were set to Retinol binding protein deficiency (Other disorders of vitamins and cofactors); Posterior segment abnormalities |