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Monogenic diabetes v3.17 ZNF808 Ida Ertmanska commented on gene: ZNF808: Comment on list classification: There are 3 unrelated patients with biallelic ZNF808 variants and diabetes diagnosed at 10-23 years old, which fits into the scope of this panel. Hence, this gene should be rated Green on Monogenic diabetes.
Monogenic diabetes v3.14 ZNF808 Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: ZNF808.
Tag Q1_26_NHS_review tag was added to gene: ZNF808.
Monogenic diabetes v3.14 ZNF808 Ida Ertmanska changed review comment from: PMID: 41500078 Russ-Silsby et al 2026
17 previously unreported individuals with biallelic loss-of-function ZNF808 variants.19 individuals had permanent neonatal diabetes; 12 had other diabetes phenotypes: 5 with infancy-onset diabetes, 4 with transient diabetes and 3 with diabetes diagnosed aged 10, 14 and 23 years.
Variable severity associated with the variants e.g.,:
p.(Thr630Serfs*24) was detected in a homozyogus state in Patient 14 (diabetes diagnosed at 23 yrs), as well as Patient 1 (PNDM diagnosed at 13 weeks), and in patient 11 (transient diabetes diagnosed at 1 day old).
p.(Tyr662*) detected in homozygous state in Patient 15 (diabetes diagnosed at 10yo) and heterozygous, in trans with a deletion, in Patient 13 (diabetes diagnosed at 14 years.; to: PMID: 41500078 Russ-Silsby et al 2026
17 previously unreported individuals with biallelic loss-of-function ZNF808 variants.19 individuals had permanent neonatal diabetes; 12 had other diabetes phenotypes: 5 with infancy-onset diabetes, 4 with transient diabetes and 3 with diabetes diagnosed aged 10, 14 and 23 years.
Variable severity associated with the variants e.g.,:
p.(Thr630Serfs*24) was detected in a homozyogus state in Patient 14 (diabetes diagnosed at 23 yrs), as well as Patient 1 (PNDM diagnosed at 13 weeks), and in patient 11 (transient diabetes diagnosed at 1 day old).
p.(Tyr662*) detected in homozygous state in Patient 15 (diabetes diagnosed at 10yo) and heterozygous, in trans with a deletion, in Patient 13 (diabetes diagnosed at 14 years).
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