This Panel is marked as Internal
Isomerism and laterality disorders
Gene: NPHP4
NPHP4 (nephrocystin 4)
EnsemblGeneIds (GRCh38): ENSG00000131697
EnsemblGeneIds (GRCh37): ENSG00000131697
OMIM: 607215, Gene2Phenotype
NPHP4 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000131697
EnsemblGeneIds (GRCh37): ENSG00000131697
OMIM: 607215, Gene2Phenotype
NPHP4 is in 20 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- UKGTN
- Phenotypes
-
- Visceral Heterotaxy, Nephronophthisis 4
- OMIM
- 607215
- Clinvar variants
- Variants in NPHP4
- Penetrance
- Complete
- Panels with this gene
-
- Laterality disorders and isomerism
- Intellectual disability
- Ophthalmological ciliopathies
- Tubulointerstitial kidney disease
- Cystic kidney disease
- Fetal anomalies
- Structural eye disease
- Renal ciliopathies
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Unexplained kidney failure in young people
- Ductal plate malformation
- Proteinuric renal disease
- DDG2P
- Retinal disorders
- Neonatal cholestasis
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
16 May 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)NPHP4 was added to Isomerism and laterality disorderspanel. Sources: UKGTN
16 May 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)NPHP4 was created by ellenmcdonagh