| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Cerebral Palsy v1.193 | KIDINS220 | Clare van Eyk reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity - #617296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v0.157 | KIDINS220 | Zornitza Stark Marked gene: KIDINS220 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v0.157 | KIDINS220 | Zornitza Stark Added comment: Comment when marking as ready: Phenotypic overlap with CP particularly for mono-allelic disease association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v0.157 | KIDINS220 | Zornitza Stark Gene: kidins220 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v0.157 | KIDINS220 | Zornitza Stark Classified gene: KIDINS220 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v0.157 | KIDINS220 | Zornitza Stark Gene: kidins220 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v0.156 | KIDINS220 |
Krithika Murali gene: KIDINS220 was added gene: KIDINS220 was added to Cerebral Palsy. Sources: Expert list,Literature Mode of inheritance for gene: KIDINS220 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIDINS220 were set to 30542205 Phenotypes for gene: KIDINS220 were set to Spastic paraplegia, intellectual disability, nystagmus, and obesity - #617296; Ventriculomegaly and arthrogryposis - #619501 Review for gene: KIDINS220 was set to GREEN Added comment: Well-established association with AD spastic paraplegia and AR ventriculomegaly and arthrogryposis - phenotypic overlap noted with CP. Also reported in 2 siblings with atypical CP likely due to parental germline mosaicism (PMID 30542205) Alternative gene names: ARMS Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||