Fetal anomalies
Gene: KIF5C

KIF5C (kinesin family member 5C)
EnsemblGeneIds (GRCh38): ENSG00000168280
EnsemblGeneIds (GRCh37): ENSG00000168280
OMIM: 604593, Gene2Phenotype
KIF5C is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Eight individuals reported (four from the same family, mother mosaic). Phenotype comprises complex cortical malformations characterised by focal pachygyria affecting the frontal region. Secondary microcephaly and refractory epilepsy are part of the natural history (epilepsy reported in at least 50%). Affected individuals present with psychomotor delay, severe intellectual disability and absence of speech with autistic spectrum disorder, stereotypic hand movements and self-injurious behaviour. Motor impairment varies from hypotonia to spastic quadriplegia. Mutational hotspot at residue p.Glu237
Created: 29 Aug 2020, 2:33 a.m. | Last Modified: 29 Aug 2020, 2:33 a.m.

Panel Version: 0.2888

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cortical dysplasia, complex, with other brain malformations 2, MIM# 615282

Publications

Created: 29 Aug 2020, 2:33 a.m.
Last Modified: 29 Aug 2020, 2:33 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.2888

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genomics England PanelApp
Genetic Health Queensland

Phenotypes

Cortical dysplasia, complex, with other brain malformations 2, OMIM:615282
Complex cortical dysplasia with other brain malformations 2, MONDO:0014116

OMIM

604593

Clinvar variants

Variants in KIF5C

Penetrance

None

Publications

Panels with this gene