Rare multisystem ciliopathy disorders
Gene: KIF7Comment 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 casesCreated: 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.
Phenotypes
Joubert syndrome; Acrocallosal syndrome; Hydrolethalus syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Promoted to version 1 by Alice Gardham on 26th January 2017
This gene has been classified as Green List (High Evidence).
Phenotypes for KIF7 were set to Joubert syndrome 12 200990; Acrocallosal syndrome 200990
This gene has been classified as Green List (High Evidence).
KIF7 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
KIF7 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
KIF7 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
KIF7 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Phenotypes for KIF7 were set to Joubert syndrome; Acrocallosal syndrome; Hydrolethalus syndrome
Publications for KIF7 were set to 21633164
This gene has been classified as Amber List (Moderate Evidence).
KIF7 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
KIF7 was created by ellenmcdonagh