Limb disorders
Gene: KIF7EnsemblGeneIds (GRCh38): ENSG00000166813
EnsemblGeneIds (GRCh37): ENSG00000166813
OMIM: 611254, Gene2Phenotype
KIF7 is in 23 panels
3 reviews
Eleanor Williams (Genomics England Curator)
Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.Created: 2 Dec 2018, 10:56 p.m.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotypes in G2P. Numerous variants reported in Acrocallosal syndrome 200990 & Joubert syndrome 12 200990Created: 12 Jul 2016, 8:50 a.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 2Created: 17 Jun 2016, 8:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Al-Gazali-Bakalinova syndrome 607131; ?Hydrolethalus syndrome 2 614120; Acrocallosal syndrome 200990; Joubert syndrome 12 200990
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- London South East RGC GSTT
- Viapath
- Phenotypes
-
- Al-Gazali-Bakalinova syndrome 607131
- Hydrolethalus syndrome 2 614120
- Acrocallosal syndrome 200990
- Joubert syndrome 12 200990
- Polydactyly
- Tags
- OMIM
- 611254
- Clinvar variants
- Variants in KIF7
- Penetrance
- None
- 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
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: KIF7.
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ana Beleza: Tier 2
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: kif7 has been removed from the panel.
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: kif7 has been removed from the panel.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Removed was added to KIF7. Rating Changed from Green List (high evidence) to No List (delete)
Added New Source, Set penetrance
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to KIF7. Panel: Limb disorders Phenotypes for gene KIF7 were set to Al-Gazali-Bakalinova syndrome 607131, Hydrolethalus syndrome 2 614120, Acrocallosal syndrome 200990, Joubert syndrome 12 200990, Polydactyly
Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Expert Review Green was added to KIF7. Panel: Limb disorders UKGTN was added to KIF7. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to KIF7. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to KIF7. Panel: Limb disorders Expert list was added to KIF7. Panel: Limb disorders Emory Genetics Laboratory was added to KIF7. Panel: Limb disorders Model of inheritance for gene KIF7 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)London South East RGC GSTT was added to KIF7. Panel: Limb disorders
Added New Source
Ellen McDonagh (Genomics England Curator)KIF7 was added to Limb disorders panel. Sources: Viapath
Created
Ellen McDonagh (Genomics England Curator)KIF7 was created by Ellen McDonagh