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  2. Childhood onset dystonia, chorea or related movement disorder
  3. CRB2
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Childhood onset dystonia, chorea or related movement disorder

Gene: CRB2

Red List (low evidence)
CRB2 (crumbs 2, cell polarity complex component)
EnsemblGeneIds (GRCh38): ENSG00000148204
EnsemblGeneIds (GRCh37): ENSG00000148204
OMIM: 609720, Gene2Phenotype
CRB2 is in 9 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
  • Ventriculomegaly with cystic kidney disease 219730
OMIM
609720
Clinvar variants
Variants in CRB2
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 CRB2. Mode of inheritance for gene CRB2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ventriculomegaly with cystic kidney disease 219730 for gene: CRB2 Publications for gene CRB2 were changed from to 25557780

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: CRB2 was added gene: CRB2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CRB2 was set to