Ductal plate malformation

Gene: NXPH2

Red List (low evidence)

NXPH2 (neurexophilin 2)
EnsemblGeneIds (GRCh38): ENSG00000144227
EnsemblGeneIds (GRCh37): ENSG00000144227
OMIM: 604635, Gene2Phenotype
NXPH2 is in 1 panel

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Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Radboud University Medical Center, Nijmegen
  • Nephronophthisis 2, infantile (602088)
Clinvar variants
Variants in NXPH2
Panels with this gene

History Filter Activity

30 Nov 2018, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ivone Leong: Confirmed to be a causative ge

6 Nov 2018, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: NXPH2 was added gene: NXPH2 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: NXPH2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NXPH2 were set to Nephronophthisis 2, infantile (602088)