Activity
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| Likely inborn error of metabolism v1.71 | RANBP2 | Sarah Leigh Classified gene: RANBP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.71 | RANBP2 | Sarah Leigh Added comment: Comment on list classification: Demoted RANBP2 from Green to Amber following review by Zornitza Stark and agreement from Helen Brittain (Genomics England clinical team). Recent papers report patients with symptoms (including seizures) after a viral illness (PMID:30796099, PMID:28336122, PMID:25128471). However, listed as a susceptibility locus in OMIM, and papers report incomplete penetrance: variant present in asymptomatic maternal grandmother in PMID:30796099 and in the father in PMID:28336122. Therefore further information (e.g. on penetrance) is required for a clear gene:disease association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.71 | RANBP2 | Sarah Leigh Gene: ranbp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.47 | RANBP2 |
Ivone Leong Source NHS GMS was added to RANBP2. Source London North GLH was added to RANBP2. |
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| Likely inborn error of metabolism v0.4 | RANBP2 |
Ellen McDonagh gene: RANBP2 was added gene: RANBP2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: RANBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RANBP2 were set to 27604308 Phenotypes for gene: RANBP2 were set to Acute necrotizing encephalopathy (Other metabolic disorders) |
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