Syndromic Retinopathy
Gene: NPHP3
NPHP3 (nephrocystin 3)
EnsemblGeneIds (GRCh38): ENSG00000113971
EnsemblGeneIds (GRCh37): ENSG00000113971
OMIM: 608002, Gene2Phenotype
NPHP3 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000113971
EnsemblGeneIds (GRCh37): ENSG00000113971
OMIM: 608002, Gene2Phenotype
NPHP3 is in 17 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Established ciliopathy gene.Created: 14 Apr 2020, 2:01 a.m. | Last Modified: 14 Apr 2020, 2:01 a.m.
Panel Version: 0.2248
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meckel syndrome 7, MIM# 267010; Nephronophthisis 3, MIM# 604387; Renal-hepatic-pancreatic dysplasia 1, MIM# 208540
Chirag Patel (Genetic Health Queensland)
not a CAKUT geneCreated: 27 Nov 2019, 11:32 p.m. | Last Modified: 27 Nov 2019, 11:32 p.m.
Panel Version: 0.0
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- RetNet
- Expert Review Green
- Victorian Clinical Genetics Services
- OMIM
- 608002
- Clinvar variants
- Variants in NPHP3
- Penetrance
- None
- Panels with this gene
-
- Joubert syndrome and other neurological ciliopathies
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Prepair 1000+
- Cholestasis
- BabyScreen+ newborn screening
- Renal Ciliopathies and Nephronophthisis
- Intellectual disability syndromic and non-syndromic
- Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Mendeliome
- Syndromic Retinopathy
- Prepair 500+
History Filter Activity
7 Feb 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)gene: NPHP3 was added gene: NPHP3 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal