Skeletal dysplasia
Gene: NPHP3Comment when marking as ready: Associated with phenotypes in OMIM and G2P. Only two variants reported in Meckel syndrome 7 267010Created: 29 Jul 2016, 8:49 a.m.
Comment on phenotypes: Variants also reported in Nephronophthisis 3 604387 and Renal-hepatic-pancreatic dysplasia 1 208540Created: 29 Jul 2016, 8:47 a.m.
Tier 2Created: 17 Jun 2016, 8:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meckel syndrome 7 267010; Nephronophthisis 3 604387; Renal-hepatic-pancreatic dysplasia 1 208540
Variants in this GENE are reported as part of current diagnostic practice
Promoted to version 1 9th August 2016
This gene has been classified as Red List (Low Evidence).
Phenotypes for NPHP3 were set to Meckel syndrome 7 267010
Mode of inheritance for NPHP3 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
NPHP3 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
NPHP3 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory
NPHP3 was created by sleigh
NPHP3 was added to Unexplained skeletal dysplasiapanel. Sources: