Familial Neural Tube Defects
Gene: NPHP3EnsemblGeneIds (GRCh38): ENSG00000113971
EnsemblGeneIds (GRCh37): ENSG00000113971
OMIM: 608002, Gene2Phenotype
NPHP3 is in 24 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Meckel Syndrome
- OMIM
- 608002
- Clinvar variants
- Variants in NPHP3
- Penetrance
- Complete
- 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
Ellen McDonagh (Genomics England Curator)25th Oct 2016: This panel was discussed internally, and as Neural tube defects (NTDs) are common multifactorial disorders caused by multiple genes and environmental factors, all genes on this panel should be considered red at this stage. Ready to promote to Version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Olivia Niblock (Genomics England Curator)NPHP3 was added to Familial Neural Tube Defectspanel. Source: UKGTN
Set Mode of Inheritance, Added New Source
Olivia Niblock (Genomics England Curator)NPHP3 was added to Familial Neural Tube Defectspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal
Created
Olivia Niblock (Genomics England Curator)NPHP3 was created by oniblock
Added New Source
Olivia Niblock (Genomics England Curator)NPHP3 was added to Familial Neural Tube Defectspanel. Sources: Radboud University Medical Center, Nijmegen