This Panel is marked as Deleted
Renal ciliopathies and nephronophthisis_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
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Details
- Mode of Inheritance
- Unknown
- Sources
-
- KidGen_CilioNephronop v38.1.0
- Expert Review Green
- OMIM
- 607100
- Clinvar variants
- Variants in NPHP1
- Penetrance
- None
- Panels with this gene
-
- Ophthalmological ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Tubulointerstitial kidney disease
- Ocular coloboma
- Skeletal dysplasia
- Retinal disorders
- Structural eye disease
- Neurological ciliopathies
- Cystic kidney disease
- Unexplained kidney failure in young people
- Ductal plate malformation
- Intellectual disability
- Fetal anomalies
- DDG2P
- Neonatal cholestasis
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
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 Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: NPHP1 was set to Unknown