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Skeletal Dysplasia_Fetal

Gene: KIAA0586

Green List (high evidence)
KIAA0586 (KIAA0586)
EnsemblGeneIds (GRCh38): ENSG00000100578
EnsemblGeneIds (GRCh37): ENSG00000100578
OMIM: 610178, Gene2Phenotype
KIAA0586 is in 16 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Four unrelated families reported with a severe neurological/skeletal phenotype. However, note same variant identified in three of the families, indicative of founder effect. Gene is also associated with Joubert syndrome.
Created: 24 May 2020, 11:03 a.m. | Last Modified: 24 May 2020, 11:03 a.m.
Panel Version: 0.27

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546

Publications

Created: 24 May 2020, 11:03 a.m.
Last Modified: 24 May 2020, 11:03 a.m.
Panel version: Imported from Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy panel version 0.27

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 26096313 - 9 unrelated families with Joubert syndrome. MRI shows the molar tooth sign in 3/3 scanned patients. Patients tended to have biallelic PTCs, though missense also reported. p.Arg143Lysfs*4 appears to be a recurring mutation, seen in patients either as a homozygote or in chet with another unique mutation in 7/9 families. Interestingly these 7 families were of different ethnicity
Sources: Literature
Created: 12 May 2020, 10:39 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 23 616490; Short-rib thoracic dysplasia 14 with polydactyly 616546

Publications

Created: 12 May 2020, 10:39 p.m.

Panel version: Imported from Fetal anomalies panel version Imported from Joubert syndrome and other neurological ciliopathies panel version 0.48

George McGillivray (Victorian Clinical Genetics Services)

I don't know

20191230:
PMID 26166481 reports a single case from 8 affected from 4 families
Sources: Other
Created: 30 Dec 2019, 4:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hydrolethalus

Publications

  • KIAA0586

Created: 30 Dec 2019, 4:11 a.m.

Panel version: Imported from Fetal anomalies panel version Imported from Hydrops fetalis panel version 0.45

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Phenotypes
  • Joubert syndrome 23 MIM#616490
  • Short-rib thoracic dysplasia 14 with polydactyly MIM#616546
OMIM
610178
Clinvar variants
Variants in KIAA0586
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2024, Gel status: 3

Set publications

Elena Savva (Victorian Clinical Genetics Services)

Publications for gene: KIAA0586 were set to

16 Feb 2024, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

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

16 Feb 2024, Gel status: 3

Set mode of inheritance

Elena Savva (Victorian Clinical Genetics Services)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KIAA0586 was added gene: KIAA0586 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KIAA0586 was set to Unknown