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Unexplained paediatric onset end-stage renal disease

Gene: KIAA0586

Green List (high evidence)

KIAA0586 (KIAA0586)
EnsemblGeneIds (GRCh38): ENSG00000100578
EnsemblGeneIds (GRCh37): ENSG00000100578
OMIM: 610178, Gene2Phenotype
KIAA0586 is in 17 panels

2 reviews

Moin Saleem (University of Bristol)

Green List (high evidence)

Include on the Unexplained paediatric onset end-stage renal disease panel. Review from Moin Saleem and Caroline Platt, University of Bristol.
Created: 25 Sep 2019, 10:58 a.m. | Last Modified: 25 Sep 2019, 10:58 a.m.
Panel Version: 0.42

Eleanor Williams (Genomics England Curator)

I don't know

Green on the Renal ciliopathies/Cystic renal disease panel.
Created: 25 Sep 2019, 10:56 a.m. | Last Modified: 25 Sep 2019, 10:56 a.m.
Panel Version: 0.41

History Filter Activity

25 Sep 2019, Gel status: 3

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

Eleanor Williams (Genomics England Curator)

gene: KIAA0586 was added gene: KIAA0586 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA0586 were set to 26096313 Phenotypes for gene: KIAA0586 were set to Joubert syndrome 23; Joubert syndrome; Short-rib thoracic dysplasia 14 with polydactyly; Short-rib dysplasia 14 with polydactyly