Rare multisystem ciliopathy disorders
Gene: TMEM216EnsemblGeneIds (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
-
- Other
- Orphanet
- Expert Review Green
- Expert list
- Phenotypes
-
- Joubert syndrome: Meckel-Gruber syndrome
- Joubert syndrome with oculorenal defect
- Meckel syndrome
- Joubert syndrome 2
- OMIM
- 613277
- Clinvar variants
- Variants in TMEM216
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- DDG2P
- Ocular coloboma
- Retinal disorders
- Familial Neural Tube Defects
- Hydrocephalus
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Structural eye disease
- Skeletal dysplasia
- Neonatal cholestasis
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Added New Source
Ellen McDonagh (Genomics England Curator)TMEM216 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
Added New Source
Ellen McDonagh (Genomics England Curator)TMEM216 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for TMEM216 were set to Joubert syndrome: Meckel-Gruber syndrome
Set publications
Ellen McDonagh (Genomics England Curator)Publications for TMEM216 were set to 22282472; 20036350; 20512146
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)TMEM216 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)TMEM216 was created by ellenmcdonagh