Skeletal dysplasia
Gene: KIF7

KIF7 (kinesin family member 7)
EnsemblGeneIds (GRCh38): ENSG00000166813
EnsemblGeneIds (GRCh37): ENSG00000166813
OMIM: 611254, Gene2Phenotype
KIF7 is in 23 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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 Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Acrocallosal syndrome 200990; Joubert syndrome 12 200990

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

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: green
Created: 6 Mar 2019, 11:36 a.m.

Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

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 200990
Created: 12 Jul 2016, 8:50 a.m.

Created: 12 Jul 2016, 8:50 a.m.

Panel version: 0.518

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 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

Created: 17 Jun 2016, 8:05 a.m.

Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
UKGTN
Radboud University Medical Center, Nijmegen
Expert list
Illumina TruGenome Clinical Sequencing Services
Emory Genetics Laboratory

Phenotypes

Joubert syndrome 12 200990
Acrocallosal syndrome 200990
Al-Gazali-Bakalinova syndrome 607131
Hydrolethalus syndrome 2 614120

OMIM

611254

Clinvar variants

Variants in KIF7

Penetrance

Complete

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Joubert syndrome 12 200990; Acrocallosal syndrome 200990 for gene: KIF7

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to KIF7. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4