1. Panels
  2. Childhood onset dystonia, chorea or related movement disorder
  3. NPHP3
Genes in panel
Prev Next
Regions in panel
Prev Next

Childhood onset dystonia, chorea or related movement disorder

Gene: NPHP3

Red List (low evidence)
NPHP3 (nephrocystin 3)
EnsemblGeneIds (GRCh38): ENSG00000113971
EnsemblGeneIds (GRCh37): ENSG00000113971
OMIM: 608002, Gene2Phenotype
NPHP3 is in 24 panels

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Created: 9 Jul 2019, 4:25 p.m.
Last Modified: 9 Jul 2019, 4:25 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

History Filter Activity

6 Dec 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to NPHP3. Mode of inheritance for gene NPHP3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Nephronophthisis 3, 604387; Senior-Loken syndrome; Renal-hepatic-pancreatic dysplasia 1, 208540; Nephronophthisis; Meckel syndrome 7, 267010; Renal-hepatic-pancreatic dysplasia for gene: NPHP3

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: NPHP3 was added gene: NPHP3 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NPHP3 was set to