Rare multisystem ciliopathy disorders
Gene: KIAA0586EnsemblGeneIds (GRCh38): ENSG00000100578
EnsemblGeneIds (GRCh37): ENSG00000100578
OMIM: 610178, Gene2Phenotype
KIAA0586 is in 15 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to expert review and >3 unrelated cases in OMIM and different variants reported for Joubert syndrome 23.Created: 27 Aug 2016, 10:28 a.m.
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
-
- Other
- Expert Review Green
- Expert list
- Phenotypes
-
- Joubert syndrome
- Short-rib dysplasia 14 with polydactyly
- Short-rib thoracic dysplasia 14 with polydactyly
- Joubert syndrome 23
- 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
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Added New Source
Ellen McDonagh (Genomics England Curator)KIAA0586 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for KIAA0586 were set to Joubert syndrome; Short-rib dysplasia 14 with polydactyly
Set publications
Ellen McDonagh (Genomics England Curator)Publications for KIAA0586 were set to 26096313
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)KIAA0586 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)KIAA0586 was created by ellenmcdonagh