Research panel - Severe Paediatric Disorders
Gene: KIF14

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: KIF14; Recommended initial gene rating: Green List (high evidence); Phenotypes: ?Meckel syndrome 12, 616258 (3) | Microcephaly 20, primary, autosomal recessive, 617914 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:21 p.m. | Last Modified: 20 Feb 2020, 5:21 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:21 p.m.
Last Modified: 20 Feb 2020, 5:21 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

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

30847515

Panels with this gene

History Filter Activity

15 Jan 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: KIF14 were changed from Microcephaly 20, primary, autosomal recessive, 617914; ?Meckel syndrome 12, 616258 to 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

21 Feb 2020, Gel status: 3