Glaucoma (developmental)
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
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
- Sources
-
- NHS GMS
- Emory Genetics Laboratory
- Phenotypes
-
- Eye Disorders
- OMIM
- 608002
- Clinvar variants
- Variants in NPHP3
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Ophthalmological ciliopathies
- CAKUT
- Cholestasis
- Paediatric or syndromic cardiomyopathy
- Retinal disorders
- Neurological ciliopathies
- Skeletal dysplasia
- Limb disorders
- Dystonia, chorea or related movement disorder, childhood onset
- Tubulointerstitial kidney disease
- Familial Neural Tube Defects
- Renal ciliopathies
- Unexplained kidney failure in young people
- Ductal plate malformation
- Fetal anomalies
- Structural eye disease
- Rare multisystem ciliopathy disorders
- DDG2P
- Neonatal cholestasis
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Cystic kidney disease
History Filter Activity
27 Apr 2017, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
11 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)NPHP3 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory