Cerebral Palsy
Gene: KIF5CEnsemblGeneIds (GRCh38): ENSG00000168280
EnsemblGeneIds (GRCh37): ENSG00000168280
OMIM: 604593, Gene2Phenotype
KIF5C is in 9 panels
1 review
Clare van Eyk (University of Adelaide)
Single individual with de novo missense variant reported in a monocentric cohort study (PMID: 39213953). Clinically spastic diplegia, DD, severe ID, epilepsy, polymicrogyria.
Sources: LiteratureCreated: 2 Sep 2024, 6:51 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cortical dysplasia, complex, with other brain malformations 2 MIM#615282
Publications
- PMID: 39213953
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Cortical dysplasia, complex, with other brain malformations 2 MIM#615282
- OMIM
- 604593
- Clinvar variants
- Variants in KIF5C
- Penetrance
- None
- Publications
-
- PMID: 39213953
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kif5c has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kif5c has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: KIF5C was added gene: KIF5C was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: KIF5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF5C were set to PMID: 39213953 Phenotypes for gene: KIF5C were set to Cortical dysplasia, complex, with other brain malformations 2 MIM#615282 Review for gene: KIF5C was set to RED