1. Panels
  2. Childhood onset dystonia, chorea or related movement disorder
  3. TMEM107
Genes in panel
Prev Next
Regions in panel
Prev Next

Childhood onset dystonia, chorea or related movement disorder

Gene: TMEM107

Red List (low evidence)
TMEM107 (transmembrane protein 107)
EnsemblGeneIds (GRCh38): ENSG00000179029
EnsemblGeneIds (GRCh37): ENSG00000179029
OMIM: 616183, Gene2Phenotype
TMEM107 is in 8 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
  • Orofaciodigital syndrome XVI 617563
  • ?Joubert syndrome 29 617562
  • Meckel syndrome 13 617562
OMIM
616183
Clinvar variants
Variants in TMEM107
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 TMEM107. Mode of inheritance for gene TMEM107 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Orofaciodigital syndrome XVI 617563; ?Joubert syndrome 29 617562; Meckel syndrome 13 617562 for gene: TMEM107 Publications for gene TMEM107 were changed from to 22698544; 26595381; 26123494; 26518474

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: TMEM107 was added gene: TMEM107 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TMEM107 was set to