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Molecular autopsy

Gene: XPNPEP3

Amber List (moderate evidence)
XPNPEP3 (X-prolyl aminopeptidase 3)
EnsemblGeneIds (GRCh38): ENSG00000196236
EnsemblGeneIds (GRCh37): ENSG00000196236
OMIM: 613553, Gene2Phenotype
XPNPEP3 is in 18 panels

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History Filter Activity

20 Dec 2018, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes nephronophthisis-like nephropathy for gene: XPNPEP3

20 Dec 2018, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes nephronophthisis-like nephropathy for gene: XPNPEP3

20 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: XPNPEP3 was added gene: XPNPEP3 was added to Molecular autopsy. Sources: Expert Review Amber Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPNPEP3 were set to PMID: 20179356 Phenotypes for gene: XPNPEP3 were set to nephronophthisis-like nephropathy