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  2. Renal and urinary tract disorders
  3. INPP5E
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Renal and urinary tract disorders

Gene: INPP5E

Red List (low evidence)
INPP5E (inositol polyphosphate-5-phosphatase E)
EnsemblGeneIds (GRCh38): ENSG00000148384
EnsemblGeneIds (GRCh37): ENSG00000148384
OMIM: 613037, Gene2Phenotype
INPP5E is in 17 panels

2 reviews

Ellen Thomas (Genomics England Curator)

Comment on list classification: Joubert gene - not including syndromic genes on this panel.
Created: 10 May 2016, 10:24 a.m.
Created: 10 May 2016, 10:24 a.m.

Panel version: Imported from Cystic kidney disease panel version 0.26

Miranda Durkie (Genetics)

Green List (high evidence)

No current test experience but this gene is on the list for an extended panel.
Created: 22 Oct 2015, 11:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 22 Oct 2015, 11:49 a.m.

Panel version: Imported from Cystic kidney disease panel version 0

History Filter Activity

30 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Miranda Durkie: No current test experience but

20 Dec 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Ciliopathy genes associated with cystic kidney disease for gene: INPP5E

20 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: INPP5E was added gene: INPP5E was added to Renal and urinary tract disorders. Sources: Expert Review Red Mode of inheritance for gene: INPP5E was set to Unknown Phenotypes for gene: INPP5E were set to Ciliopathy genes associated with cystic kidney disease