Cystic kidney disease
Gene: KIF7
KIF7 (kinesin family member 7)
EnsemblGeneIds (GRCh38): ENSG00000166813
EnsemblGeneIds (GRCh37): ENSG00000166813
OMIM: 611254, Gene2Phenotype
KIF7 is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000166813
EnsemblGeneIds (GRCh37): ENSG00000166813
OMIM: 611254, Gene2Phenotype
KIF7 is in 23 panels
1 review
Miranda Durkie (Genetics)
May act as modifier. Possible digenic inheritance when found with heterozygous mutation in another gene e.g. CEP41 (Pubmed 22246503)Created: 26 Oct 2015, 5:18 p.m.
Mode of inheritance
Other
Details
- Sources
-
- Expert Review Red
- Expert
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- OMIM
- 611254
- Clinvar variants
- Variants in KIF7
- Penetrance
- Complete
- Panels with this gene
-
- VACTERL-like phenotypes
- Ophthalmological ciliopathies
- Renal ciliopathies
- Skeletal dysplasia
- Neurological ciliopathies
- Cystic kidney disease
- DDG2P
- Fetal anomalies
- Ocular coloboma
- Hydrocephalus
- Intellectual disability
- Unexplained kidney failure in young people
- Optic neuropathy
- Dystonia, chorea or related movement disorder, childhood onset
- Ductal plate malformation
- Limb disorders
- Structural eye disease
- Rare multisystem ciliopathy disorders
- Glaucoma (developmental)
- Thoracic dystrophies
- Retinal disorders
- Primary ciliary disorders
- Clefting
History Filter Activity
10 May 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
15 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)KIF7 was added to Cystic kidney diseasepanel. Sources: Expert