Clefting
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
Helen Brittain (Genomics England Curator)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY
- SRTD14
- OMIM
- 610178
- Clinvar variants
- Variants in KIAA0586
- Penetrance
- Complete
- 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
31 May 2017, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
26 May 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)KIAA0586 was added to Cleftingpanel. Sources: Expert Review Green
26 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)KIAA0586 was created by ellenmcdonagh