Panel: DD Gene: KIAA0586 Disease: JOUBERT SYNDROME

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KIAA0586

Gene symbol
KIAA0586
OMIM MIM
Ensembl stable ID
ENSG00000100578
Synonyms
Location

JOUBERT SYNDROME

Disease ontology accessions

  • Joubert syndrome Orphanet:475
  • Joubert syndrome with ocular defect Orphanet:220493

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Gene-Disease Attributes

Disease confidence
confirmed

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Allelic requirement
biallelic
Mutation consequence summary
loss of function

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biallelic
digenic
hemizygous
imprinted
mitochondrial
monoallelic
monoallelic (Y)
mosaic
uncertain
x-linked dominant
x-linked over-dominance

Phenotypes

Organ specificity

  • Brain/Cognition

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Bone Marrow/Immune
Brain/Cognition
Cancer predisposition
Ear
Endocrine
Endocrine/Metabolic
Eye
Face
GI tract
Genitalia
Hair/Nails
Heart/Cardiovasculature/Lymphatic
Kidney Renal Tract
Liver
Lungs
Multisystem
Musculature
Peripheral nerves
Respiratory tract
Skeleton
Skin
Spinal cord/Peripheral nerves
Teeth & Dentitian

Variants