Renal ciliopathies

Gene: KIF7

Green List (high evidence)

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

3 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Possible digenic inheritance reported in Joubert but not in acrocallosal syndrome.
Created: 23 Jan 2017, 12:06 p.m.
Comment on list classification: Sufficient reported cases
Created: 23 Jan 2017, 12:05 p.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Unsure due to link to digenic inheritance for several entries in OMIM.
Created: 27 Aug 2016, 10:36 a.m.

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.

Phenotypes
Joubert syndrome; Acrocallosal syndrome; Hydrolethalus syndrome

Publications

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

History Filter Activity

10 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: KIF7 was added gene: KIF7 was added to Renal ciliopathies. Sources: Emory Genetics Laboratory,Other,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Expert Review Green Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF7 were set to 21633164 Phenotypes for gene: KIF7 were set to Joubert syndrome 12 200990; Acrocallosal syndrome 200990