Rare multisystem ciliopathy disorders
Gene: KIF7EnsemblGeneIds (GRCh38): ENSG00000166813
EnsemblGeneIds (GRCh37): ENSG00000166813
OMIM: 611254, Gene2Phenotype
KIF7 is in 23 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 casesCreated: 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)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Other
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Joubert syndrome 12 200990
- Acrocallosal syndrome 200990
- OMIM
- 611254
- Clinvar variants
- Variants in KIF7
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Structural eye disease
- Skeletal dysplasia
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- VACTERL-like phenotypes
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Retinal disorders
- DDG2P
- Fetal anomalies
- Ocular coloboma
- Optic neuropathy
- Clefting
- Hydrocephalus
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for KIF7 were set to Joubert syndrome 12 200990; Acrocallosal syndrome 200990
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)KIF7 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
Upload gene information
Ellen McDonagh (Genomics England Curator)KIF7 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
Upload gene information
Ellen McDonagh (Genomics England Curator)KIF7 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
Upload gene information
Ellen McDonagh (Genomics England Curator)KIF7 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for KIF7 were set to Joubert syndrome; Acrocallosal syndrome; Hydrolethalus syndrome
Set publications
Ellen McDonagh (Genomics England Curator)Publications for KIF7 were set to 21633164
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)KIF7 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)KIF7 was created by ellenmcdonagh