Laterality disorders and isomerism

Gene: NPHP4

Amber List (moderate evidence)

NPHP4 (nephrocystin 4)
EnsemblGeneIds (GRCh38): ENSG00000131697
EnsemblGeneIds (GRCh37): ENSG00000131697
OMIM: 607215, Gene2Phenotype
NPHP4 is in 23 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: NPHP4; Suggested initial gene rating: Amber; Evidence for inclusion: Heart malformations, causes laterality defects in zebrafish (Circ Res. 2012 Jun 8; 110(12): 15641574.); Evidence for exclusion: Cannot see evidence of isomerism association beyond this one paper (no further cases since 2012).; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 5 Dec 2018, 12:52 p.m.

History Filter Activity

5 Dec 2018, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to NPHP4. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

5 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: NPHP4 was added gene: NPHP4 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: NPHP4 was set to