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Unexplained young onset end-stage renal disease

Gene: IFT43

Green List (high evidence)

IFT43 (intraflagellar transport 43)
EnsemblGeneIds (GRCh38): ENSG00000119650
EnsemblGeneIds (GRCh37): ENSG00000119650
OMIM: 614068, Gene2Phenotype
IFT43 is in 16 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: IFT43 was added gene: IFT43 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT43 were set to 22791528; 29896747; 21378380; 24027799; 28400947; 26892345 Phenotypes for gene: IFT43 were set to Cranioectodermal dysplasia 3, 614099; Sensenbrenner syndrome; Short-rib thoracic dysplasia 18 with polydactyly, 617866