Ataxia - paediatric
Gene: TMEM67

TMEM67 (transmembrane protein 67)
EnsemblGeneIds (GRCh38): ENSG00000164953
EnsemblGeneIds (GRCh37): ENSG00000164953
OMIM: 609884, Gene2Phenotype
TMEM67 is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Ataxia is part of the phenotype.
Created: 16 Apr 2020, 7:30 a.m. | Last Modified: 16 Apr 2020, 7:30 a.m.

Panel Version: 0.64

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 6, MIM# 610688

Created: 16 Apr 2020, 7:30 a.m.
Last Modified: 16 Apr 2020, 7:30 a.m.
Panel version: 0.64

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Joubert syndrome 6, MIM# 610688

OMIM

609884

Clinvar variants

Variants in TMEM67

Penetrance

None

Panels with this gene

History Filter Activity

16 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem67 has been classified as Green List (High Evidence).

16 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TMEM67 were changed from Joubert syndrome 6 to Joubert syndrome 6, MIM# 610688

19 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: TMEM67 was added gene: TMEM67 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM67 were set to Joubert syndrome 6

Ataxia - paediatric Gene: TMEM67