Joubert syndrome

Gene: KIF7

Red List (low evidence)

KIF7 (kinesin family member 7)
EnsemblGeneIds (GRCh38): ENSG00000166813
EnsemblGeneIds (GRCh37): ENSG00000166813
OMIM: 611254, Gene2Phenotype
KIF7 is in 25 panels

1 review

Penny Clouston (Oxford)

Green List (high evidence)

On current diagnostic panel; no positive families in patient cohort to date. Evidence in literature.
Created: 15 Mar 2016, 2:43 p.m.

Joubert syndrome; Acrocallosal syndrome; Hydrolethalus syndrome


Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

17 Nov 2016, Gel status: 0

Approved Gene

Alice Gardham (Genomics England)

This proposed gene was validated and added to this panel

15 Mar 2016, Gel status: 0


Penny Clouston (Oxford)

KIF7 was created by PennyC

15 Mar 2016, Gel status: 0

Added New Source

Penny Clouston (Oxford)

KIF7 was added to Joubert syndromepanel. Sources: Expert Review