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  3. KIAA0586
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Research panel - Severe Paediatric Disorders

Gene: KIAA0586

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: KIAA0586; Recommended initial gene rating: Green List (high evidence); Phenotypes: Joubert syndrome 23, 616490 (3) | Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:21 p.m. | Last Modified: 20 Feb 2020, 5:21 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:21 p.m.
Last Modified: 20 Feb 2020, 5:21 p.m.
Panel version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Short-rib thoracic dysplasia 14 with polydactyly, 616546
  • Joubert syndrome 23, 616490
OMIM
610178
Clinvar variants
Variants in KIAA0586
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene KIAA0586 was changed from to BIALLELIC, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene KIAA0586 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Short-rib thoracic dysplasia 14 with polydactyly, 616546; Joubert syndrome 23, 616490 for gene: KIAA0586

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Short-rib thoracic dysplasia 14 with polydactyly, 616546; Joubert syndrome 23, 616490 for gene: KIAA0586

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Short-rib thoracic dysplasia 14 with polydactyly, 616546; Joubert syndrome 23, 616490 for gene: KIAA0586

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Joubert syndrome 23, 616490; Short-rib thoracic dysplasia 14 with polydactyly, 616546 for gene: KIAA0586

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to KIAA0586.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to KIAA0586. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: KIAA0586 was added gene: KIAA0586 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: KIAA0586 was set to