| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Intellectual disability syndromic and non-syndromic v2.28 | KLC1 | Sangavi Sivagnanasundram Classified gene: KLC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.28 | KLC1 | Sangavi Sivagnanasundram Gene: klc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.27 | KLC1 |
Sangavi Sivagnanasundram changed review comment from: 7 individuals reported with rare missense variants in KLC1 in individuals affected with a neurodevelopmental disorder characterised by dystonia, spasticity, ID and DD. Sources: Literature; to: 5 of the 7 individuals reported with rare missense variants in KLC1 in individuals affected with a neurodevelopmental disorder characterised by dystonia, spasticity, ID and DD. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.27 | Sangavi Sivagnanasundram Copied gene KLC1 from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.27 | KLC1 |
Sangavi Sivagnanasundram gene: KLC1 was added gene: KLC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: KLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KLC1 were set to 42372486 Phenotypes for gene: KLC1 were set to KLC1-related neurodevelopmental disorder, MONDO:0700092 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||