Rare multisystem ciliopathy disorders
Gene: KIF14EnsemblGeneIds (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 familyCreated: 25 Jan 2017, 1:18 p.m.
Gabrielle Wheway (University of the West of England)
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
- PMID: 24128419
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Other
- Orphanet
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Meckel syndrome 12, OMIM:616258
- Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552
- OMIM
- 611279
- Clinvar variants
- Variants in KIF14
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: KIF14 were changed from intrauterine growth restriction (IUGR); microcephaly; renal cystic dysplasia/agenesis; complex brain malformation; genitourinary malformation; ?Meckel syndrome 12, 616258; Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome; ?Meckel syndrome 12 to Meckel syndrome 12, OMIM:616258; Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)KIF14 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
Added New Source
Ellen McDonagh (Genomics England Curator)KIF14 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
Upload gene information
Ellen McDonagh (Genomics England Curator)KIF14 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene KIF14 were set to intrauterine growth restriction (IUGR);microcephaly;renal cystic dysplasia/agenesis;complex brain malformation;genitourinary malformation;?Meckel syndrome 12, 616258
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for KIF14 were set to intrauterine growth restriction (IUGR); microcephaly; renal cystic dysplasia/agenesis; complex brain malformation; genitourinary malformation
Set publications
Ellen McDonagh (Genomics England Curator)Publications for KIF14 were set to 24128419
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for KIF14 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)KIF14 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)KIF14 was created by ellenmcdonagh