| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v2.436 | DLGAP1 | chirag patel Marked gene: DLGAP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.436 | DLGAP1 | chirag patel Gene: dlgap1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.436 | DLGAP1 | chirag patel Classified gene: DLGAP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.436 | DLGAP1 | chirag patel Gene: dlgap1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.435 | DLGAP1 |
chirag patel gene: DLGAP1 was added gene: DLGAP1 was added to Mendeliome. Sources: Other Mode of inheritance for gene: DLGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DLGAP1 were set to Neurodevelopmental disorder, MONDO:0700092, DLGAP1-related Review for gene: DLGAP1 was set to AMBER Added comment: ESHG 2026 14 unrelated individuals with 13 different rare heterozygous de novo variants (missense, nonsense, splice, frameshift) throughout DLGAP1 gene. Individuals presented with developmental delay (14), intellectual disability (7), ASD (11), seizures (5) and other non-specific features. DLGAP1 (GKAP) encodes a postsynaptic scaffold protein bridging DLG4 to SHANK3. Disruption of other synaptic scaffolding proteins (DLG4 and SHANK3) is well known to cause neurodevelopmental disorders. Expression experiments revealed no gross instability of the mutant proteins. However, co-immunoprecipitation assays demonstrated impaired binding between DLGAP1 and DLG4 for the p.(Arg343Gln) variant and complete loss of SHANK interaction for the frameshift mutant, indicating a disruption of postsynaptic scaffold integrity. Sources: Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||