| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Monogenic Diabetes v1.17 | HDAC4 | chirag patel Marked gene: HDAC4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v1.17 | HDAC4 | chirag patel Gene: hdac4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v1.17 | HDAC4 | chirag patel Classified gene: HDAC4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v1.17 | HDAC4 | chirag patel Gene: hdac4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v1.16 | HDAC4 |
chirag patel gene: HDAC4 was added gene: HDAC4 was added to Monogenic Diabetes. Sources: Literature Mode of inheritance for gene: HDAC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HDAC4 were set to 30968599 Phenotypes for gene: HDAC4 were set to Monogenic diabetes, MONDO:0015967 Review for gene: HDAC4 was set to AMBER Added comment: PMID 30968599 reports 3 individuals from 3 families with rare heterozygous missense HDAC4 variants (p.H227R de novo, p.D234N unk inheritance, p.E374K inherited from affected mother). Individuals presented with childhood‑onset non‑autoimmune diabetes (range 6-15yrs). Functional assays of all 3 variants in mouse β‑cell lines showed significantly reduced insulin secretion. Note: HDAC4 gene is associated with a neurodevelopmental disorder (PMID 33537682) but there were none of these features reported in these 3 patients Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||