This Panel is marked as Deleted
Cholestasis Victorian Clinical Genetics Services
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
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 613277
- Clinvar variants
- Variants in TMEM216
- Penetrance
- None
- Panels with this gene
-
- Ophthalmological ciliopathies
- Retinal disorders
- Neurological ciliopathies
- Limb disorders
- Dystonia, chorea or related movement disorder, childhood onset
- Ocular coloboma
- Hydrocephalus
- Familial Neural Tube Defects
- Renal ciliopathies
- Unexplained kidney failure in young people
- Ductal plate malformation
- Fetal anomalies
- Structural eye disease
- Rare multisystem ciliopathy disorders
- Skeletal dysplasia
- DDG2P
- Neonatal cholestasis
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Intellectual disability
- Cystic kidney disease
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)TMEM216 was added to Cholestasis Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)TMEM216 was created by Sarah Leigh