This Panel is marked as Internal
Joubert syndrome
Gene: TMEM231
TMEM231 (transmembrane protein 231)
EnsemblGeneIds (GRCh38): ENSG00000205084
EnsemblGeneIds (GRCh37): ENSG00000205084
OMIM: 614949, Gene2Phenotype
TMEM231 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000205084
EnsemblGeneIds (GRCh37): ENSG00000205084
OMIM: 614949, Gene2Phenotype
TMEM231 is in 18 panels
1 review
Penny Clouston (Oxford)
On current diagnostic panel; no positive families in patient cohort to date. Evidence from literature.Created: 16 Mar 2016, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Joubert syndrome
- Meckel-Gruber syndrome
- OMIM
- 614949
- Clinvar variants
- Variants in TMEM231
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Ophthalmological ciliopathies
- Neurological ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Fetal anomalies
- Ocular coloboma
- Limb disorders
- Intellectual disability
- Familial Neural Tube Defects
- Unexplained kidney failure in young people
- Ductal plate malformation
- Retinal disorders
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Skeletal dysplasia
- Thoracic dystrophies
- Primary ciliary disorders
- Structural eye disease
History Filter Activity
17 Nov 2016, Gel status: 0
Approved Gene
Alice Gardham (Genomics England)This proposed gene was validated and added to this panel
16 Mar 2016, Gel status: 0
Added New Source
Penny Clouston (Oxford)TMEM231 was added to Joubert syndromepanel. Sources: Expert Review
16 Mar 2016, Gel status: 0
Created
Penny Clouston (Oxford)TMEM231 was created by PennyC