Fetal anomalies
Gene: KIF14

KIF14 (kinesin family member 14)
EnsemblGeneIds (GRCh38): ENSG00000118193
EnsemblGeneIds (GRCh37): ENSG00000118193
OMIM: 611279, Gene2Phenotype
KIF14 is in 9 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.

Panel Version: 1.836

Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Associated with relevant phenotype in OMIM and Gene2Phenotype. At least 13 unrelated families reported with most cases being of fetal relevance. Phenotypes within the spectrum of fetal forms of ciliopathies (MKS) as well as severe primary microcephaly. Also supportive zebrafish model.

Rating Amber but should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 15 Jan 2021, 12:34 p.m. | Last Modified: 15 Jan 2021, 12:34 p.m.

Panel Version: 1.143

Created: 15 Jan 2021, 12:34 p.m.
Last Modified: 15 Jan 2021, 12:34 p.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

Two fetuses in one family with complex multiple congenital anomalies consistent with ciliopathy phenotype. (PMID: 24128419)
Four more families with fetuses with similar phenotype (microcephaly, brain malformations and renal agenesis or hypodysplasia). Also functional (zebrafish) studies. Authors conclude that LOF variants cause the above syndromic phenotype while hypomorphic variants cause microcephaly without kidney defects. (PMID: 30388224)

Four unrelated families with AR primary microcephaly and biallelic KIF14 pathogenic variants (PMID: 28892560)
Four more unrelated families with AR primary microcephaly and biallelic KIF14 pathogenic variants. Two sibs from one of the families were fetuses with severe microcephaly detected prenatally and leading to termination of pregnancy. (PMID: 29343805)
Sources: Literature
Created: 9 Sep 2020, 11:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Meckel syndrome 12; Microcephaly 20, primary

Publications

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

Created: 9 Sep 2020, 11:15 a.m.

Panel version: 1.95

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Microcephaly 20, primary, autosomal recessive, OMIM:617914
Microcephaly 20, primary, autosomal recessive, MONDO:0054761
Meckel syndrome 12, OMIM:616258
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552

OMIM

611279

Clinvar variants

Variants in KIF14

Penetrance

None

Publications

Panels with this gene