Renal ciliopathies
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
3 reviews
Alice Gardham (Genomics England)
Comment when marking as ready: Possible digenic inheritance reported in Joubert but not in acrocallosal syndrome.Created: 23 Jan 2017, 12:06 p.m.
Comment on list classification: Sufficient reported casesCreated: 23 Jan 2017, 12:05 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Unsure due to link to digenic inheritance for several entries in OMIM.Created: 27 Aug 2016, 10:36 a.m.
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
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Other
- Emory Genetics Laboratory
- Phenotypes
-
- Joubert syndrome 12 200990
- Acrocallosal syndrome 200990
- OMIM
- 611254
- Clinvar variants
- Variants in KIF7
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hydrocephalus
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Structural eye disease
- Skeletal dysplasia
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- VACTERL-like phenotypes
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Retinal disorders
- DDG2P
- Ocular coloboma
- Optic neuropathy
- Clefting
History Filter Activity
10 Jul 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: KIF7 was added gene: KIF7 was added to Renal ciliopathies. Sources: Emory Genetics Laboratory,Other,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Expert Review Green Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF7 were set to 21633164 Phenotypes for gene: KIF7 were set to Joubert syndrome 12 200990; Acrocallosal syndrome 200990