Neonatal cholestasis
Gene: NPHP3EnsemblGeneIds (GRCh38): ENSG00000113971
EnsemblGeneIds (GRCh37): ENSG00000113971
OMIM: 608002, Gene2Phenotype
NPHP3 is in 24 panels
2 reviews
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
Comment on list classification: Cholestasis is not a major feature of Nephronophthisis 3. Biallelic variants in this gene have been reported in Caroli syndrome and renal-hepatic-pancreatic dysplasia; only a small number of cases have been reported and features vary. It would be less likely for variants in this gene to present with isolated cholestasis; NPHP3 is on a number of other panels including rare multisystem ciliopathies and cystic kidneys.Created: 25 Jul 2018, 2:13 p.m.
Jane Hartley (Birmingham Women and Children's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
- Phenotypes
-
- Renal-hepatic-pancreatic dysplasia 208540
- OMIM
- 608002
- Clinvar variants
- Variants in NPHP3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Familial Neural Tube Defects
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Structural eye disease
- Paediatric or syndromic cardiomyopathy
- Skeletal dysplasia
- Neonatal cholestasis
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- CAKUT
- Cholestasis
- Renal ciliopathies
- Limb disorders
- Tubulointerstitial kidney disease
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Retinal disorders
- DDG2P
History Filter Activity
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
Entity classified by Genomics England curator
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Gene: nphp3 has been classified as Amber List (Moderate Evidence).
Set publications
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Publications for gene: NPHP3 were set to 21845392; 18371931; 20007846; 23686967
Set publications
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Publications for gene: NPHP3 were set to 21845392; 18371931; 20007846
Entity classified by Genomics England curator
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Gene: nphp3 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Phenotypes for gene: NPHP3 were set to Renal-hepatic-pancreatic dysplasia 208540
Set Phenotypes
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Phenotypes for gene: NPHP3 were set to Renal-hepatic-pancreatic dysplasia
Set mode of inheritance
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Mode of inheritance for gene: NPHP3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set publications
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Publications for gene: NPHP3 were set to 21845392; 18371931
Set publications
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Publications for gene: NPHP3 were set to 21845392
Added New Source
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to NPHP3. Panel: Cholestasis
Added New Source
Ellen McDonagh (Genomics England Curator)NPHP3 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)NPHP3 was created by Ellen McDonagh