Laterality disorders and isomerismGene: NPHP4
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.
Source Expert Review Amber was added to NPHP4. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
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