Cerebral Palsy
Gene: KIF14EnsemblGeneIds (GRCh38): ENSG00000118193
EnsemblGeneIds (GRCh37): ENSG00000118193
OMIM: 611279, Gene2Phenotype
KIF14 is in 10 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual reported with biallelic variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: LiteratureCreated: 17 Jun 2024, 2:36 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 20, primary, MIM#617914
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Microcephaly 20, primary, MIM#617914
- OMIM
- 611279
- Clinvar variants
- Variants in KIF14
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kif14 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kif14 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: KIF14 was added gene: KIF14 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF14 were set to PMID: 38693247 Phenotypes for gene: KIF14 were set to Microcephaly 20, primary, MIM#617914 Review for gene: KIF14 was set to RED