Ophthalmological ciliopathies

Gene: NPHP3

Green List (high evidence)

NPHP3 (nephrocystin 3)
EnsemblGeneIds (GRCh38): ENSG00000113971
EnsemblGeneIds (GRCh37): ENSG00000113971
OMIM: 608002, Gene2Phenotype
NPHP3 is in 26 panels

1 review

Alice Gardham (Genomics England)

Comment when marking as ready: Many cases of nephronophthisis 3 as well as one set of siblings with Meckel and one set of siblings with renal-hepatic-pancreatic dysplasia/Meckel overlap. Recognised on G2P and on GOS ciliopathy panel
Created: 19 Jan 2017, 3:24 p.m.

History Filter Activity

8 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: NPHP3 was added gene: NPHP3 was added to Ophthalmological ciliopathies. Sources: Emory Genetics Laboratory,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP3 were set to Renal-hepatic-pancreatic dysplasia; Senior-Loken syndrome; Nephronophthisis 3, 604387; Meckel syndrome 7, 267010; Renal-hepatic-pancreatic dysplasia 1, 208540; Nephronophthisis