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Cerebral Palsy

Gene: KIF14

Red List (low evidence)

KIF14 (kinesin family member 14)
EnsemblGeneIds (GRCh38): ENSG00000118193
EnsemblGeneIds (GRCh37): ENSG00000118193
OMIM: 611279, Gene2Phenotype
KIF14 is in 10 panels

1 review

Clare van Eyk (University of Adelaide)

Red List (low evidence)

1 individual reported with biallelic variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature
Created: 17 Jun 2024, 2:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 20, primary, MIM#617914

Publications

History Filter Activity

17 Jun 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kif14 has been classified as Red List (Low Evidence).

17 Jun 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kif14 has been classified as Red List (Low Evidence).

17 Jun 2024, Gel status: 0

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