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  3. INPP5E
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Childhood onset dystonia, chorea or related movement disorder

Gene: INPP5E

Red List (low evidence)
INPP5E (inositol polyphosphate-5-phosphatase E)
EnsemblGeneIds (GRCh38): ENSG00000148384
EnsemblGeneIds (GRCh37): ENSG00000148384
OMIM: 613037, Gene2Phenotype
INPP5E is in 17 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

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 INPP5E. Mode of inheritance for gene INPP5E was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Joubert syndrome; Joubert syndrome 1 for gene: INPP5E Publications for gene INPP5E were changed from to 26748598; 23386033

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: INPP5E was added gene: INPP5E was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: INPP5E was set to