| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v2.33 | DOP1A | Zornitza Stark Marked gene: DOP1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.33 | DOP1A | Zornitza Stark Gene: dop1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.33 | DOP1A | Zornitza Stark Classified gene: DOP1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.33 | DOP1A | Zornitza Stark Gene: dop1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.32 | DOP1A |
Zornitza Stark gene: DOP1A was added gene: DOP1A was added to Mendeliome. Sources: Literature Mode of inheritance for gene: DOP1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DOP1A were set to 42164854; 38818041 Phenotypes for gene: DOP1A were set to Neurodevelopmental disorder, MONDO:0700092, DOP1A-related Review for gene: DOP1A was set to GREEN Added comment: PMID 42164854 reports five individuals from five families with de novo heterozygous loss‑of‑function or missense DOP1A variants causing a dominant neurodevelopmental disorder characterised by intellectual disability, developmental delay, seizures and autism. PMID 42164854 also reports two families with homozygous variants, adding to the one previously described in PMID 38818041presenting with a recessive neurodevelopmental disorder that includes intellectual disability, developmental delay, seizures, brain malformations, ataxia, spasticity and nystagmus. Extensive functional data including DOP1A knock‑down in Neuro2a cells which demonstrates increased nuclear phospholipids and lipid droplets; and a mouse knockout which recapitulates neuronal overgrowth, CDK2 nuclear accumulation and behavioural deficits. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||