VACTERL-like phenotypes
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
Muriel Holder (Clinical Genetics, Guy's Hospital)
Details
- Sources
-
- Emory Genetics Laboratory
- OMIM
- 611254
- Clinvar variants
- Variants in KIF7
- Penetrance
- Complete
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
- VACTERL-like phenotypes
- Renal ciliopathies
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Limb disorders
- DDG2P
- Ocular coloboma
- Optic neuropathy
- Intellectual disability
- Clefting
- Retinal disorders
- Hydrocephalus
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Structural eye disease
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
History Filter Activity
28 Apr 2015, Gel status: 1
Added New Source
GEL ()KIF7 was added to VACTERL-like phenotypepanel. Sources: Emory Genetics Laboratory