Childhood onset dystonia, chorea or related movement disorder
Gene: CSPP1

CSPP1 (centrosome and spindle pole associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000104218
EnsemblGeneIds (GRCh37): ENSG00000104218
OMIM: 611654, Gene2Phenotype
CSPP1 is in 15 panels

1 review

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

Red List (low evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 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

Meckel syndrome
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 21

OMIM

611654

Clinvar variants

Variants in CSPP1

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 CSPP1. Mode of inheritance for gene CSPP1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Meckel syndrome; Joubert syndrome; Meckel-Gruber syndrome; Joubert syndrome 21 for gene: CSPP1 Publications for gene CSPP1 were changed from to 24360803; 24360808; 24360807