Neurological ciliopathiesGene: KIF7
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.
Comment on list classification: Unsure due to link to digenic inheritance for several entries in OMIM.
Created: 27 Aug 2016, 10:36 a.m.
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
gene: KIF7 was added gene: KIF7 was added to Neurological ciliopathies. Sources: 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