Limb disorders
Gene: KIF7Comment 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.
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.
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
Tag curated_removed tag was added to gene: KIF7.
Ana Beleza: Tier 2
Gene: kif7 has been removed from the panel.
Gene: kif7 has been removed from the panel.
Source Expert Review Removed was added to KIF7. Rating Changed from Green List (high evidence) to No List (delete)
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
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
London South East RGC GSTT was added to KIF7. Panel: Limb disorders
KIF7 was added to Limb disorders panel. Sources: Viapath
KIF7 was created by Ellen McDonagh