Structural eye disease
Gene: NPHP3EnsemblGeneIds (GRCh38): ENSG00000113971
EnsemblGeneIds (GRCh37): ENSG00000113971
OMIM: 608002, Gene2Phenotype
NPHP3 is in 24 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 3; Meckel syndrome 7; Renal-hepatic-pancreatic dysplasia 1; 604387; 267010; 208540
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 3; Meckel syndrome 7; Renal-hepatic-pancreatic dysplasia 1; 604387; 267010; 208540
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- 604387
- Eye Disorders
- Nephronophthisis 3
- Meckel syndrome 7
- Renal-hepatic-pancreatic dysplasia 1
- 267010
- 208540
- OMIM
- 608002
- Clinvar variants
- Variants in NPHP3
- Penetrance
- None
- Panels with this gene
-
- Ophthalmological ciliopathies
- CAKUT
- Cholestasis
- Renal ciliopathies
- Neurological ciliopathies
- Cystic kidney disease
- Fetal anomalies
- Tubulointerstitial kidney disease
- Familial Neural Tube Defects
- Unexplained kidney failure in young people
- Skeletal dysplasia
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Ductal plate malformation
- Limb disorders
- Structural eye disease
- Rare multisystem ciliopathy disorders
- DDG2P
- Neonatal cholestasis
- Glaucoma (developmental)
- Thoracic dystrophies
- Retinal disorders
- Primary ciliary disorders
- Paediatric or syndromic cardiomyopathy
History Filter Activity
Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to NPHP3. Mode of inheritance for gene NPHP3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 604387; Meckel syndrome 7; Nephronophthisis 3; Renal-hepatic-pancreatic dysplasia 1; 267010; 208540 for gene: NPHP3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: NPHP3 was added gene: NPHP3 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: NPHP3 was set to Phenotypes for gene: NPHP3 were set to Eye Disorders