Joubert syndrome

Gene: KIAA0586

Red List (low evidence)

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

1 review

Penny Clouston (Oxford)

Green List (high evidence)

On current diagnostic panel; positive families within patient cohort. Evidence from literature.
Created: 16 Mar 2016, 11:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome; Short-rib dysplasia 14 with polydactyly

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Joubert syndrome, Short-rib thoracic dysplasia 14 with polydactyly
OMIM
610178
Clinvar variants
Variants in KIAA0586
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Nov 2016, Gel status: 0

Approved Gene

Alice Gardham (Genomics England)

This proposed gene was validated and added to this panel

16 Mar 2016, Gel status: 0

Created

Penny Clouston (Oxford)

KIAA0586 was created by PennyC

16 Mar 2016, Gel status: 0

Added New Source

Penny Clouston (Oxford)

KIAA0586 was added to Joubert syndromepanel. Sources: Expert Review