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  3. KIF14
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Neurological ciliopathies

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

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Only reported in one family
Created: 25 Jan 2017, 1:18 p.m.
Created: 25 Jan 2017, 1:18 p.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.471

Gabrielle Wheway (University of the West of England)

I don't know

Only one reported family, with two affected individuals. Compound heterozygous frameshift/premature stop and nonsense mutations. Mutations segregate with disease in compound heterozygous pattern. Mutations not found in any variant database checked.
Created: 5 Jul 2016, 2:47 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
intrauterine growth restriction (IUGR); microcephaly; renal cystic dysplasia/agenesis; complex brain malformation; genitourinary malformation

Publications

Created: 5 Jul 2016, 2:47 p.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.8

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • 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

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; complex brain malformation; ?Meckel syndrome 12; intrauterine growth restriction (IUGR); microcephaly; Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome; genitourinary malformation; renal cystic dysplasia/agenesis to Meckel syndrome 12, OMIM:616258; Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552

25 Jul 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: KIF14 was added gene: KIF14 was added to Neurological ciliopathies. Sources: Expert Review Red Mode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF14 were set to 24128419 Phenotypes for gene: KIF14 were set to ?Meckel syndrome 12, 616258; complex brain malformation; ?Meckel syndrome 12; intrauterine growth restriction (IUGR); microcephaly; Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome; genitourinary malformation; renal cystic dysplasia/agenesis