1. Panels
  2. Childhood onset dystonia, chorea or related movement disorder
  3. RPGRIP1L
Genes in panel
Prev Next
Regions in panel
Prev Next

Childhood onset dystonia, chorea or related movement disorder

Gene: RPGRIP1L

Red List (low evidence)
RPGRIP1L (RPGRIP1 like)
EnsemblGeneIds (GRCh38): ENSG00000103494
EnsemblGeneIds (GRCh37): ENSG00000103494
OMIM: 610937, Gene2Phenotype
RPGRIP1L 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, Set publications

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to RPGRIP1L. Mode of inheritance for gene RPGRIP1L was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Joubert syndrome 7; Joubert syndrome; Meckel-Gruber syndrome; Meckel syndrome 5; Meckel syndrome for gene: RPGRIP1L Publications for gene RPGRIP1L were changed from to 17558409; 17558407; 19574260

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: RPGRIP1L was added gene: RPGRIP1L was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: RPGRIP1L was set to