This Panel is marked as Internal
Groopman et al 2019 - Genes with diagnostic variants
Gene: NPHP3
NPHP3 (nephrocystin 3)
EnsemblGeneIds (GRCh38): ENSG00000113971
EnsemblGeneIds (GRCh37): ENSG00000113971
OMIM: 608002, Gene2Phenotype
NPHP3 is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000113971
EnsemblGeneIds (GRCh37): ENSG00000113971
OMIM: 608002, Gene2Phenotype
NPHP3 is in 24 panels
1 review
Eleanor Williams (Genomics England Curator)
From Groopman et al 2019 Table S7. Gene symbol: NPHP3; Inheritance: AR; Clinical diagnosis: Glomerulopathy; Nephropathy of unknown origin; Genetic diagnosis: Nephronophthisis 3; OMIM phenotype MIM number: 604387; 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert review green
- Literature
- Phenotypes
-
- MIM 604387
- Nephronophthisis 3
- Nephropathy of unknown origin
- Glomerulopathy
- OMIM
- 608002
- Clinvar variants
- Variants in NPHP3
- Penetrance
- None
- Panels with this gene
-
- Ophthalmological ciliopathies
- Neurological ciliopathies
- CAKUT
- Limb disorders
- Fetal anomalies
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Tubulointerstitial kidney disease
- Cholestasis
- Familial Neural Tube Defects
- Paediatric or syndromic cardiomyopathy
- Unexplained kidney failure in young people
- Ductal plate malformation
- Retinal disorders
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Intellectual disability
- Neonatal cholestasis
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Structural eye disease
- Skeletal dysplasia
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 NPHP3. 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: NPHP3 was added gene: NPHP3 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP3 were set to MIM 604387; Nephronophthisis 3; Nephropathy of unknown origin; Glomerulopathy