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  2. GMS Respiratory specialist test group Laterality disorders and isomerism
  3. NPHP4
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GMS Respiratory specialist test group 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 20 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 intial 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: 26 Nov 2018, 2:25 p.m.
Created: 26 Nov 2018, 2:25 p.m.

Panel version: 0.1

History Filter Activity

26 Nov 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)

26 Nov 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 GMS Respiratory specialist test group Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: NPHP4 was set to