| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Cerebellar hypoplasia v1.53 | FOXP1 |
Dmitrijs Rots gene: FOXP1 was added gene: FOXP1 was added to Cerebellar hypoplasia. Sources: Literature Mode of inheritance for gene: FOXP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXP1 were set to PMID: 31474318 Phenotypes for gene: FOXP1 were set to Mental retardation with language impairment and with or without autistic features Penetrance for gene: FOXP1 were set to Complete Review for gene: FOXP1 was set to GREEN gene: FOXP1 was marked as current diagnostic Added comment: In PMID: 31474318 found 11 patient with DNM AHDC1 variant and cerebellar hypoplasia (see suplements of the paper). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||