Limb disorders
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)
Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.Created: 2 Dec 2018, 11:08 p.m.
Details
- Sources
-
- Expert Review Removed
- Victorian Clinical Genetics Services
- Phenotypes
-
- Polydactyly
- Tags
- OMIM
- 608002
- Clinvar variants
- Variants in NPHP3
- Penetrance
- None
- Panels with this gene
-
- Unexplained kidney failure in young people
- Dystonia, chorea or related movement disorder, childhood onset
- Ductal plate malformation
- Structural eye disease
- Rare multisystem ciliopathy disorders
- Limb disorders
- Neonatal cholestasis
- Glaucoma (developmental)
- Thoracic dystrophies
- Retinal disorders
- Primary ciliary disorders
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Ophthalmological ciliopathies
- Fetal anomalies
- CAKUT
- Cholestasis
- Renal ciliopathies
- Skeletal dysplasia
- Neurological ciliopathies
- Cystic kidney disease
- DDG2P
- Tubulointerstitial kidney disease
- Familial Neural Tube Defects
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: NPHP3.
11 Dec 2018, Gel status: 0
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Eleanor Williams: Comment on list classification
2 Dec 2018, Gel status: 0
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: nphp3 has been removed from the panel.
2 Dec 2018, Gel status: 0
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: nphp3 has been removed from the panel.
2 Dec 2018, Gel status: 0
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Removed was added to NPHP3. Rating Changed from Red List (low evidence) to No List (delete)
13 Aug 2018, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)NPHP3 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
13 Aug 2018, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)NPHP3 was created by Ellen McDonagh