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Limb disorders

Gene: KIAA0586

No list

KIAA0586 (KIAA0586)
EnsemblGeneIds (GRCh38): ENSG00000100578
EnsemblGeneIds (GRCh37): ENSG00000100578
OMIM: 610178, Gene2Phenotype
KIAA0586 is in 13 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.
Created: 2 Dec 2018, 10:56 p.m.
Comment on list classification: Rated green because three different variants have been reported in individuals presenting with a polydactyly phenotype as part of Joubert syndrome or Short-rib thoracic dysplasia 14 with polydactyly. 1 variant is thought to be a founder mutation but functional studies support this being the causative mutation.
Created: 7 Nov 2018, 11:30 a.m.
Associated with Joubert syndrome 23 and Short-rib thoracic dysplasia 14 with polydactyly in OMIM and Joubert syndrome in Gene2Phenotype.

4 families described in PMID: 26166481 for Short-rib thoracic dysplasia 14 with polydactyly. One family is a consanguineous Lebanese family in which 2 fetuses exhibited severe hydrocephaly, polydactyly, and skeletal abnormalities. A homozygous nonsense mutation was identified (S77X). They identified 3 further unrelated Eastern European families with cerebral anomalies, polydactyly, and long-bone shortening, including short ribs, who were all homozygous for the same splice site variant in KIAA0586 (c.1815G-A). Haplotype analysis of these 3 families was consistent with a common ancestor, estimated to have lived 16 generations (480 years) earlier. Functional studies using fibroblasts from one of the Eastern European families showed a reduced number of cells presenting with cilia compared to wild type cells.

Bachmann-Gagescu et al. (2015) (PMID: 26096313) identified homozygous or compound heterozygous mutations in the KIAA0586 gene in individuals with Joubert syndrome-23 from 9 unrelated families. Only 1 patient of Middle eastern origin had polydactyly (D566V variant).

Akawi et al (2015)(PMID: 26437029) also report 8 individuals from 6 families with variants in KIAA0586 and a clinical diagnosis of Joubert syndrome in 7 individuals. No limb phenotypes are reported.

In summary, three different variants have been reported in individuals presenting with a polydactyly phenotype as part of Joubert syndrome or Short-rib thoracic dysplasia 14 with polydactyly. 1 variant is thought to be a founder mutation.
Created: 6 Nov 2018, 10:45 p.m.
Genomics England clinical team notes - Agree with amber rating. Not primarily limb. On appropriate panels already
Created: 9 Sep 2018, 6:13 p.m.

Ellen McDonagh (Genomics England Curator)

Comment on publications: 4 families described in PMID: 26166481 for Short-rib thoracic dysplasia 14 with polydactyly.
Created: 9 Apr 2018, 2:38 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
  • Other
Phenotypes
  • Short-rib thoracic dysplasia 14 with polydactyly 616546
  • Polydactyly
  • Joubert syndrome 23 616490
OMIM
610178
Clinvar variants
Variants in KIAA0586
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 0

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen McDonagh: Comment on publications: 4 fam

2 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: kiaa0586 has been removed from the panel.

2 Dec 2018, Gel status: 0

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Removed was added to KIAA0586. Rating Changed from Green List (high evidence) to No List (delete)

7 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: kiaa0586 has been classified as Green List (High Evidence).

7 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: kiaa0586 has been classified as Green List (High Evidence).

6 Nov 2018, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: KIAA0586 were changed from Short-rib thoracic dysplasia 14 with polydactyly 616546; Polydactyly to Short-rib thoracic dysplasia 14 with polydactyly 616546; Polydactyly; Joubert syndrome 23 616490

6 Nov 2018, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: KIAA0586 were set to 26166481; 26437029

6 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: kiaa0586 has been classified as Green List (High Evidence).

6 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: kiaa0586 has been classified as Amber List (Moderate Evidence).

13 Aug 2018, Gel status: 2

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to KIAA0586. Panel: Limb disorders Phenotypes for gene KIAA0586 were set to Short-rib thoracic dysplasia 14 with polydactyly 616546, Polydactyly

9 Apr 2018, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for KIAA0586 were set to 26166481; 26437029

9 Apr 2018, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for KIAA0586 were set to 26166481

9 Apr 2018, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

9 Apr 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KIAA0586 was added to Limb disorders panel. Sources: Other

9 Apr 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

KIAA0586 was created by Ellen McDonagh