This Panel is marked as Deleted
Kidneyome_SuperPanel_KidGen_VCGS
Gene: NPHP1
NPHP1 (nephrocystin 1)
EnsemblGeneIds (GRCh38): ENSG00000144061
EnsemblGeneIds (GRCh37): ENSG00000144061
OMIM: 607100, Gene2Phenotype
NPHP1 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000144061
EnsemblGeneIds (GRCh37): ENSG00000144061
OMIM: 607100, Gene2Phenotype
NPHP1 is in 20 panels
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- KidGen_CilioNephronop v38.1.0
- OMIM
- 607100
- Clinvar variants
- Variants in NPHP1
- Penetrance
- None
- Panels with this gene
-
- Retinal disorders
- Ophthalmological ciliopathies
- Tubulointerstitial kidney disease
- Cystic kidney disease
- Renal ciliopathies
- Ocular coloboma
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Unexplained kidney failure in young people
- Ductal plate malformation
- DDG2P
- Rare multisystem ciliopathy disorders
- Neonatal cholestasis
- Skeletal dysplasia
- Neurological ciliopathies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Structural eye disease
- Fetal anomalies
History Filter Activity
23 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: NPHP1 was added gene: NPHP1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green Mode of inheritance for gene: NPHP1 was set to Unknown