KIAA0586 Chromosome 14
KIAA0586
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What This Gene Does
This gene encodes a conserved centrosomal protein that functions in ciliogenesis and responds to hedgehog signaling. Mutations in this gene causes Joubert syndrome 23. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Aug 2016]
Associated Conditions (17)
Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly
KIAA0586-related disorder
Inborn genetic diseases
Jeune thoracic dystrophy
Joubert syndrome and related disorders
Ciliopathy
Clear cell carcinoma of kidney
Meckel-Gruber syndrome
Congenital cerebellar hypoplasia
Intellectual disability
Rod-cone dystrophy
Neurodevelopmental disorder
Joubert syndrome
Retinal dystrophy
KIAA0586- Related disorders
Primary ciliary dyskinesia
Key Variants
RS140026883
Conflicting classifications of pathogenicity
Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, KIAA0586-related disorder
Health Risk
RS147844088
Conflicting classifications of pathogenicity
Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
Health Risk
RS1490434047
Conflicting classifications of pathogenicity
Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
Health Risk
RS181413894
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, KIAA0586-related disorder
Health Risk
RS183168709
Conflicting classifications of pathogenicity
Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, KIAA0586-related disorder
Health Risk
RS188676684
Conflicting classifications of pathogenicity
Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, KIAA0586-related disorder
Health Risk
RS193056942
Conflicting classifications of pathogenicity
Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Inborn genetic diseases
Health Risk
RS199537542
Conflicting classifications of pathogenicity
Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Inborn genetic diseases
Health Risk
RS200127338
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, KIAA0586-related disorder
Health Risk
RS200722491
Conflicting classifications of pathogenicity
Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, KIAA0586-related disorder
Health Risk
RS201202020
Conflicting classifications of pathogenicity
Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, KIAA0586-related disorder
Health Risk
RS201929144
Conflicting classifications of pathogenicity
Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Inborn genetic diseases
Health Risk
All Variants (160)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1595050325 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 23, Joubert syndrome 23 |
| RS534542684 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 23, Joubert syndrome, Short-rib thoracic dysplasia 14 with polydactyly |
| RS555421894 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Retinal dystrophy |
| RS745949846 | Health Risk | Pathogenic/Likely pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Joubert syndrome 23 |
| RS749475936 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome and related disorders |
| RS764118184 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS771240219 | Health Risk | Pathogenic/Likely pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS867342730 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS901508284 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome and related disorders, Joubert syndrome and related disorders |
| RS985118235 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 23, Joubert syndrome 23 |