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Fetal anomalies

Gene: NPHP4

Green List (high evidence)

NPHP4 (nephrocystin 4)
EnsemblGeneIds (GRCh38): ENSG00000131697
EnsemblGeneIds (GRCh37): ENSG00000131697
OMIM: 607215, Gene2Phenotype
NPHP4 is in 24 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotype includes hyperechoic kidneys. Therefore promote from Red to Green.
Created: 25 Jul 2019, 8:04 a.m. | Last Modified: 25 Jul 2019, 8:04 a.m.
Panel Version: 0.311
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NPHP4 gene rating from Green to Red.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for NEPHRONOPHTHISIS TYPE 4
Created: 11 Dec 2018, 9:05 a.m.

History Filter Activity

25 Jul 2019, Gel status: 3

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

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

24 Mar 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

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

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: NPHP4 was added gene: NPHP4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP4 were set to NEPHRONOPHTHISIS TYPE 4