Skeletal dysplasia
Gene: KIF7
polydactyly-syndactyly-triphalangism SD gp >3 cilipathy cases reported. Alsoa associated with Al-Gazali-Bakalinova syndrome 607131;Hydrolethalus syndrome 2 614120; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Acrocallosal syndrome 200990; Joubert syndrome 12 200990
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: KIF7; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.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
Added phenotypes Joubert syndrome 12 200990; Acrocallosal syndrome 200990 for gene: KIF7
Source NHS GMS was added to KIF7. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for KIF7 were set to Al-Gazali-Bakalinova syndrome 607131; Hydrolethalus syndrome 2 614120; Acrocallosal syndrome 200990; Joubert syndrome 12 200990
Mode of inheritance for KIF7 was changed to BIALLELIC, autosomal or pseudoautosomal
KIF7 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
KIF7 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory
KIF7 was added to Unexplained skeletal dysplasiapanel. Sources:
KIF7 was created by sleigh