Childhood onset dystonia, chorea or related movement disorder
Gene: TMEM67

TMEM67 (transmembrane protein 67)
EnsemblGeneIds (GRCh38): ENSG00000164953
EnsemblGeneIds (GRCh37): ENSG00000164953
OMIM: 609884, Gene2Phenotype
TMEM67 is in 24 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

613550
607361
Joubert syndrome
?Bardet-Biedl syndrome?
COACH syndrome
216360
Joubert syndrome 6
Meckel-Gruber syndrome
Meckel syndrome
nephronophthisis
Senior-Boichis syndrome
610688
Nephronophthisis 11

OMIM

609884

Clinvar variants

Variants in TMEM67

Penetrance

None

Publications

PMID: 17160906
PMID: 19058225
PMID: 20607301
PMID: 16415887
PMID: 18327255
PMID: 19508969

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 TMEM67. Mode of inheritance for gene TMEM67 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 613550; 607361; Joubert syndrome; ?Bardet-Biedl syndrome?; 216360; Joubert syndrome 6; Meckel-Gruber syndrome; Meckel syndrome; COACH syndrome; nephronophthisis; Senior-Boichis syndrome; 610688; Nephronophthisis 11 for gene: TMEM67 Publications for gene TMEM67 were changed from to PMID: 17160906; PMID: 19058225; PMID: 20607301; PMID: 16415887; PMID: 18327255; PMID: 19508969