Childhood onset dystonia, chorea or related movement disorder
Gene: IFT52

IFT52 (intraflagellar transport 52)
EnsemblGeneIds (GRCh38): ENSG00000101052
EnsemblGeneIds (GRCh37): ENSG00000101052
OMIM: 617094, Gene2Phenotype
IFT52 is in 9 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

Expert Review Red
London North GLH

OMIM

617094

Clinvar variants

Variants in IFT52

Penetrance

None

Panels with this gene

History Filter Activity

29 Jan 2021, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: IFT52 was changed from to BIALLELIC, autosomal or pseudoautosomal

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: IFT52 was added gene: IFT52 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: IFT52 was set to

Childhood onset dystonia, chorea or related movement disorder Gene: IFT52