Neurological ciliopathies
Gene: TMEM216
TMEM216 (transmembrane protein 216)
EnsemblGeneIds (GRCh38): ENSG00000187049
EnsemblGeneIds (GRCh37): ENSG00000187049
OMIM: 613277, Gene2Phenotype
TMEM216 is in 22 panels
EnsemblGeneIds (GRCh38): ENSG00000187049
EnsemblGeneIds (GRCh37): ENSG00000187049
OMIM: 613277, Gene2Phenotype
TMEM216 is in 22 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to expert review. ARG73LEU rs201108965 reported in multiple Ashkenazi Jewish families with Joubert syndrome-2 (a founder mutation). Additional variants reported in Turkish, Tunisian, and Palestinian cases with Joubert syndrome-2 or Meckel syndrome 2.Created: 28 Aug 2016, 8:22 a.m.
Penny Clouston (Oxford)
On current diagnostic panel; positive families in patient cohort. Evidence from the literature.
Common Ashkenazi Jewish variant.Created: 16 Mar 2016, 3:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome: Meckel-Gruber syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Joubert syndrome: Meckel-Gruber syndrome
- Joubert syndrome with oculorenal defect
- Meckel syndrome
- Joubert syndrome 2
- OMIM
- 613277
- Clinvar variants
- Variants in TMEM216
- Penetrance
- None
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Limb disorders
- DDG2P
- Ocular coloboma
- Intellectual disability
- Retinal disorders
- Familial Neural Tube Defects
- Hydrocephalus
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Structural eye disease
- Neonatal cholestasis
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
25 Jul 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: TMEM216 was added gene: TMEM216 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM216 were set to 22282472; 20036350; 20512146 Phenotypes for gene: TMEM216 were set to Joubert syndrome: Meckel-Gruber syndrome; Joubert syndrome with oculorenal defect; Meckel syndrome; Joubert syndrome 2