Familial Neural Tube Defects
Gene: KIF14

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

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Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Radboud University Medical Center, Nijmegen

Phenotypes

Meckel syndrome 12, OMIM:616258
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552

OMIM

611279

Clinvar variants

Variants in KIF14

Penetrance

Complete

Panels with this gene

History Filter Activity

15 Jan 2021, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: KIF14 was changed from to BIALLELIC, autosomal or pseudoautosomal

15 Jan 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: KIF14 were changed from Meckel Syndrome to Meckel syndrome 12, OMIM:616258; Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552

25 Oct 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

25th Oct 2016: This panel was discussed internally, and as Neural tube defects (NTDs) are common multifactorial disorders caused by multiple genes and environmental factors, all genes on this panel should be considered red at this stage. Ready to promote to Version 1.

22 Sep 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

KIF14 was added to Familial Neural Tube Defectspanel. Sources: Radboud University Medical Center, Nijmegen

22 Sep 2016, Gel status: 0

Created