Groopman et al 2019 - Genes with diagnostic variants
Gene: NPHP4

NPHP4 (nephrocystin 4)
EnsemblGeneIds (GRCh38): ENSG00000131697
EnsemblGeneIds (GRCh37): ENSG00000131697
OMIM: 607215, Gene2Phenotype
NPHP4 is in 20 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: NPHP4; Inheritance: AR; Clinical diagnosis: Nephropathy of unknown origin; Genetic diagnosis: Nephronophthisis 4; OMIM phenotype MIM no.: 606966; Number of cases: 3 (1 homozygous, 2 compound heterozygous)
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.

Panel Version: 0.4

Created: 2 Jul 2019, 9:46 p.m.
Last Modified: 2 Jul 2019, 9:46 p.m.
Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert review green
Literature

Phenotypes

Nephropathy of unknown origin
MIM 606966
Nephronophthisis 4

OMIM

607215

Clinvar variants

Variants in NPHP4

Penetrance

None

Panels with this gene

History Filter Activity

2 Jul 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

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

2 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: NPHP4 was added gene: NPHP4 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP4 were set to Nephropathy of unknown origin; MIM 606966; Nephronophthisis 4

Groopman et al 2019 - Genes with diagnostic variants Gene: NPHP4