This Panel is marked as Internal
Joubert syndrome
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
Penny Clouston (Oxford)
On current diagnostic panel; no positive families in patient cohort to date. Evidence in literature.Created: 15 Mar 2016, 2:43 p.m.
Phenotypes
Joubert syndrome; Acrocallosal syndrome; Hydrolethalus syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Joubert syndrome
- Acrocallosal syndrome
- OMIM
- 611254
- Clinvar variants
- Variants in KIF7
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Structural eye disease
- Ocular coloboma
- Unexplained kidney failure in young people
- Ductal plate malformation
- Clefting
- Renal ciliopathies
- DDG2P
- Rare multisystem ciliopathy disorders
- Fetal anomalies
- Cystic kidney disease
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Skeletal dysplasia
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- VACTERL-like phenotypes
- Optic neuropathy
- Limb disorders
- Hydrocephalus
- Ophthalmological ciliopathies
- Neurological ciliopathies
- Retinal disorders
History Filter Activity
17 Nov 2016, Gel status: 0
Approved Gene
Alice Gardham (Genomics England)This proposed gene was validated and added to this panel
15 Mar 2016, Gel status: 0
Created
Penny Clouston (Oxford)KIF7 was created by PennyC
15 Mar 2016, Gel status: 0
Added New Source
Penny Clouston (Oxford)KIF7 was added to Joubert syndromepanel. Sources: Expert Review