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  2. Ductal plate malformation
  3. KIF14
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Ductal plate malformation

Gene: KIF14

Red List (low evidence)
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
None
Panels with this gene

History Filter Activity

15 Jan 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

30 Nov 2018, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Bill Griffiths: Sources: Literature

6 Nov 2018, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: KIF14 was added gene: KIF14 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIF14 were set to ?Meckel syndrome 12 (616258)