Renal and urinary tract disorders
Gene: KIF7EnsemblGeneIds (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
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- OMIM
- 611254
- Clinvar variants
- Variants in KIF7
- Penetrance
- None
- Panels with this gene
-
- VACTERL-like phenotypes
- Renal ciliopathies
- Ophthalmological ciliopathies
- Clefting
- Ocular coloboma
- Limb disorders
- Structural eye disease
- Skeletal dysplasia
- Optic neuropathy
- Childhood onset dystonia, chorea or related movement disorder
- Neurological ciliopathies
- Hydrocephalus
- Retinal disorders
- Unexplained kidney failure in young people
- Intellectual disability
- Ductal plate malformation
- Cystic kidney disease
- Fetal anomalies
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Miranda Durkie: May act as modifier. Possible
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Ciliopathy genes associated with cystic kidney disease for gene: KIF7
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: KIF7 was added gene: KIF7 was added to Renal and urinary tract disorders. Sources: Expert Review Red Mode of inheritance for gene: KIF7 was set to Unknown Phenotypes for gene: KIF7 were set to Ciliopathy genes associated with cystic kidney disease