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

CENPF (centromere protein F)
EnsemblGeneIds (GRCh38): ENSG00000117724
EnsemblGeneIds (GRCh37): ENSG00000117724
OMIM: 600236, Gene2Phenotype
CENPF is in 16 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

Stromme syndrome, OMIM:243605
Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome

OMIM

600236

Clinvar variants

Variants in CENPF

Penetrance

None

Publications

26820108

Panels with this gene

History Filter Activity

26 Apr 2024, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CENPF were changed from Stromme syndrome, 243605; Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome to Stromme syndrome, OMIM:243605; Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome

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 CENPF. Mode of inheritance for gene CENPF was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Stromme syndrome, 243605; Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome for gene: CENPF Publications for gene CENPF were changed from to 26820108