Activity
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7 actions
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| Monogenic diabetes v3.14 | ZNF808 | Ida Ertmanska Phenotypes for gene: ZNF808 were changed from Diabetes to Pancreatic agenesis 3, OMIM:620991; diabetes mellitus, MONDO:0005015 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.13 | ZNF808 | Ida Ertmanska Publications for gene: ZNF808 were set to PMID: 41500078 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.12 | ZNF808 | Ida Ertmanska Classified gene: ZNF808 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.12 | ZNF808 | Ida Ertmanska Gene: znf808 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.11 | ZNF808 | Ida Ertmanska reviewed gene: ZNF808: Rating: GREEN; Mode of pathogenicity: None; Publications: 37973953, 41500078; Phenotypes: Pancreatic agenesis 3, OMIM:620991, diabetes mellitus, MONDO:0005015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.11 | ZNF808 | Ida Ertmanska Mode of inheritance for gene: ZNF808 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.10 | ZNF808 |
Kevin Colclough gene: ZNF808 was added gene: ZNF808 was added to Monogenic diabetes. Sources: Expert Review Mode of inheritance for gene: ZNF808 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZNF808 were set to PMID: 41500078 Phenotypes for gene: ZNF808 were set to Diabetes Penetrance for gene: ZNF808 were set to unknown Review for gene: ZNF808 was set to GREEN gene: ZNF808 was marked as current diagnostic Added comment: Biallelic pathogenic protein-truncating/null variants in the ZNF808 gene cause permanent neonatal diabetes (De Franco et al 2023 PMID: 37973953) and the gene is included as a green gene on the R143 neonatal diabetes panel. More recently, the diabetes phenotype has been expanded to include transient neonatal diabetes and monogenic diabetes diagnosed in childhood and early adulthood with a MODY phenotype (Russ-Silsby et al 2026 PMID: 41500078). The paper reports three individuals with biallelic ZNF808 heterozygous loss of function variants diagnosed at ages 10, 14 and 23. All three individuals would meet current eligibility criteria for R141 testing and were in fact patients that previously had negative R141 testing and consented for further testing of ZNF808 on a research basis. Two of these patients were treated with an oral hyperglycaemic agent called a sulphonylurea and responded well to this treatment with good glycaemic control. Sources: Expert Review |
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