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  2. Dystonia, chorea or related movement disorder, childhood onset
  3. TMEM138
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Dystonia, chorea or related movement disorder, childhood onset

Gene: TMEM138

Red List (low evidence)
TMEM138 (transmembrane protein 138)
EnsemblGeneIds (GRCh38): ENSG00000149483
EnsemblGeneIds (GRCh37): ENSG00000149483
OMIM: 614459, Gene2Phenotype
TMEM138 is in 15 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 TMEM138. Mode of inheritance for gene TMEM138 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Joubert syndrome 16; Joubert syndrome with oculorenal defect for gene: TMEM138 Publications for gene TMEM138 were changed from to 22282472

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: TMEM138 was added gene: TMEM138 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TMEM138 was set to