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  2. Childhood onset dystonia, chorea or related movement disorder
  3. KIAA0586
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Childhood onset dystonia, chorea or related movement disorder

Gene: KIAA0586

Red List (low evidence)
KIAA0586 (KIAA0586)
EnsemblGeneIds (GRCh38): ENSG00000100578
EnsemblGeneIds (GRCh37): ENSG00000100578
OMIM: 610178, Gene2Phenotype
KIAA0586 is in 15 panels

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Created: 9 Jul 2019, 4:25 p.m.
Last Modified: 9 Jul 2019, 4:25 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • PanelApp
  • Expert Review Red
  • London North GLH
Phenotypes
  • Short-rib dysplasia 14 with polydactyly
  • Short-rib thoracic dysplasia 14 with polydactyly
  • Joubert syndrome 23
  • Joubert syndrome
OMIM
610178
Clinvar variants
Variants in KIAA0586
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to KIAA0586. Mode of inheritance for gene KIAA0586 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Short-rib thoracic dysplasia 14 with polydactyly; Joubert syndrome; Joubert syndrome 23; Short-rib dysplasia 14 with polydactyly for gene: KIAA0586 Publications for gene KIAA0586 were changed from to 26096313

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: KIAA0586 was added gene: KIAA0586 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: KIAA0586 was set to