| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Intellectual disability syndromic and non-syndromic v2.44 | KIF6 | Rylee Peters Marked gene: KIF6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.44 | KIF6 | Rylee Peters Gene: kif6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.44 | KIF6 |
Rylee Peters gene: KIF6 was added gene: KIF6 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: KIF6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF6 were set to 30475797 Phenotypes for gene: KIF6 were set to Neurodevelopmental disorder, MONDO:0700092, KIF6-related Review for gene: KIF6 was set to RED Added comment: PMID: 30475797 describes a consanguineous family homozygous for a frameshift KIF6 variant (p.L398fsX2) presenting with macrocephaly, intellectual disability and developmental delay. Knock-in homozygous mouse model with analogous variant displayed severe, postnatal-onset hydrocephalus. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||