Cystic kidney disease
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 Thomas (Genomics England Curator)
Comment on list classification: Syndromic, not relevant for this panel.Created: 10 May 2016, 12:43 p.m.
Miranda Durkie (Genetics)
No current test experience but this gene is on the list for an extended panel.
Created: 26 Oct 2015, 3:54 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meckel-Gruber type 2; Jouberts syndrome type 2
Publications
Details
- Sources
-
- Expert Review Red
- Expert
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- OMIM
- 613277
- Clinvar variants
- Variants in TMEM216
- Penetrance
- Complete
- Panels with this gene
-
- Retinal disorders
- Ophthalmological ciliopathies
- Cystic kidney disease
- Renal ciliopathies
- Ocular coloboma
- Intellectual disability
- Hydrocephalus
- Familial Neural Tube Defects
- Childhood onset dystonia, chorea or related movement disorder
- Unexplained kidney failure in young people
- Ductal plate malformation
- DDG2P
- Rare multisystem ciliopathy disorders
- Neonatal cholestasis
- Skeletal dysplasia
- Neurological ciliopathies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Limb disorders
- Structural eye disease
- Fetal anomalies
History Filter Activity
10 May 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
10 May 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
15 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)TMEM216 was added to Cystic kidney diseasepanel. Sources: Expert