This Panel is marked as Internal
Joubert syndrome
Gene: KIAA0586
KIAA0586 (KIAA0586)
EnsemblGeneIds (GRCh38): ENSG00000100578
EnsemblGeneIds (GRCh37): ENSG00000100578
OMIM: 610178, Gene2Phenotype
KIAA0586 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000100578
EnsemblGeneIds (GRCh37): ENSG00000100578
OMIM: 610178, Gene2Phenotype
KIAA0586 is in 15 panels
1 review
Penny Clouston (Oxford)
On current diagnostic panel; positive families within patient cohort. Evidence from literature.Created: 16 Mar 2016, 11:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome; Short-rib dysplasia 14 with polydactyly
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Joubert syndrome, Short-rib thoracic dysplasia 14 with polydactyly
- OMIM
- 610178
- Clinvar variants
- Variants in KIAA0586
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Limb disorders
- DDG2P
- Intellectual disability
- Clefting
- Hydrocephalus
- Ductal plate malformation
- Skeletal ciliopathies
- Neurological ciliopathies
- Structural eye disease
- Fetal anomalies
- Thoracic dystrophies
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
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
16 Mar 2016, Gel status: 0
Created
Penny Clouston (Oxford)KIAA0586 was created by PennyC
16 Mar 2016, Gel status: 0
Added New Source
Penny Clouston (Oxford)KIAA0586 was added to Joubert syndromepanel. Sources: Expert Review