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| 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 |
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| Mendeliome v2.0 | SHANK3 | Gene migrated from ENSG00000251322 to ENSG00000251322 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7877 | SHANK3 | Zornitza Stark Publications for gene: SHANK3 were set to 30842224 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7876 | SHANK3 | Zornitza Stark Tag SV/CNV tag was added to gene: SHANK3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7876 | SHANK3 | Zornitza Stark reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16284256, 17173049, 20186804, 22892527; Phenotypes: Phelan-McDermid syndrome, MIM# 606232; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7876 | SHANK3 | Zornitza Stark Phenotypes for gene: SHANK3 were changed from Phelan-McDermid syndrome 606232; Rett syndrome; Rett-like phenotypes to Phelan-McDermid syndrome 606232; MONDO:0011652 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2407 | SHANK3 | Zornitza Stark Marked gene: SHANK3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2407 | SHANK3 | Zornitza Stark Gene: shank3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2407 | SHANK3 | Zornitza Stark Phenotypes for gene: SHANK3 were changed from to Phelan-McDermid syndrome 606232; Rett syndrome; Rett-like phenotypes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2406 | SHANK3 | Zornitza Stark Publications for gene: SHANK3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2405 | SHANK3 | Zornitza Stark Mode of inheritance for gene: SHANK3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2362 | SHANK3 | Ain Roesley reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30842224; Phenotypes: Rett syndrome, Rett-like phenotypes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | SHANK3 |
Zornitza Stark gene: SHANK3 was added gene: SHANK3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SHANK3 was set to Unknown |
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