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Severe microcephaly

Gene: KIF14

No list

KIF14 (kinesin family member 14)
EnsemblGeneIds (GRCh38): ENSG00000118193
EnsemblGeneIds (GRCh37): ENSG00000118193
OMIM: 611279, Gene2Phenotype
KIF14 is in 11 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

At least 8 families reported. Microcephaly ranged from -3.6 to -11 SD.
Sources: Expert list
Created: 1 Sep 2020, 5:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 20, primary, autosomal recessive, MIM# 617914

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Microcephaly 20, primary, autosomal recessive, MIM# 617914
OMIM
611279
Clinvar variants
Variants in KIF14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Sep 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: KIF14 was added gene: KIF14 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF14 were set to 28892560; 29343805 Phenotypes for gene: KIF14 were set to Microcephaly 20, primary, autosomal recessive, MIM# 617914 Review for gene: KIF14 was set to GREEN gene: KIF14 was marked as current diagnostic