This Panel is marked as Deleted
Kidneyome_SuperPanel_KidGen_VCGS
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
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- KidGen_CilioNephronop v38.1.0
- OMIM
- 608002
- Clinvar variants
- Variants in NPHP3
- Penetrance
- None
- Panels with this gene
-
- Structural eye disease
- Fetal anomalies
- Retinal disorders
- CAKUT
- Paediatric or syndromic cardiomyopathy
- Ophthalmological ciliopathies
- Tubulointerstitial kidney disease
- Cystic kidney disease
- Renal ciliopathies
- Intellectual disability
- Familial Neural Tube Defects
- Childhood onset dystonia, chorea or related movement disorder
- Unexplained kidney failure in young people
- Ductal plate malformation
- DDG2P
- Rare multisystem ciliopathy disorders
- Cholestasis
- Neonatal cholestasis
- Skeletal dysplasia
- Neurological ciliopathies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Limb disorders
History Filter Activity
24 Dec 2019, Gel status: 3
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to NPHP3. Rating Changed from Red List (low evidence) to Green List (high evidence)
23 Dec 2019, Gel status: 1
Added New Source, Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Red was added to NPHP3. Source Victorian Clinical Genetics Services was added to NPHP3. Rating Changed from Green List (high evidence) to Red List (low evidence)
23 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: NPHP3 was added gene: NPHP3 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green Mode of inheritance for gene: NPHP3 was set to Unknown