Dystonia, chorea or related movement disorder, childhood onset
Gene: RPGRIP1L

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

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

PanelApp
Expert Review Red
London North GLH

Phenotypes

Joubert syndrome 7
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome 5
Meckel syndrome

OMIM

610937

Clinvar variants

Variants in RPGRIP1L

Penetrance

None

Publications

Panels with this gene

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