Childhood onset dystonia, chorea or related movement disorder
Gene: TMEM216

TMEM216 (transmembrane protein 216)
EnsemblGeneIds (GRCh38): ENSG00000187049
EnsemblGeneIds (GRCh37): ENSG00000187049
OMIM: 613277, Gene2Phenotype
TMEM216 is in 22 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

PanelApp
Expert Review Red
London North GLH

Phenotypes

Joubert syndrome: Meckel-Gruber syndrome
Joubert syndrome 2
Meckel syndrome
Joubert syndrome with oculorenal defect

OMIM

613277

Clinvar variants

Variants in TMEM216

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 TMEM216. Mode of inheritance for gene TMEM216 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Joubert syndrome: Meckel-Gruber syndrome; Joubert syndrome 2; Joubert syndrome with oculorenal defect; Meckel syndrome for gene: TMEM216 Publications for gene TMEM216 were changed from to 22282472; 20512146; 20036350