Neonatal cholestasis
Gene: TMEM216EnsemblGeneIds (GRCh38): ENSG00000187049
EnsemblGeneIds (GRCh37): ENSG00000187049
OMIM: 613277, Gene2Phenotype
TMEM216 is in 22 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Based on reviewer's commentsCreated: 21 Aug 2018, 9:19 a.m.
Eleanor Williams (Genomics England Curator)
Comment on list classification: Rating as Amber, in line with MKS1 on this panel which is also associated with Meckel syndromeCreated: 15 Aug 2018, 3:11 p.m.
Comment on phenotypes: Added OMIM phenotype of Meckel syndrome 2. Note this gene is also associated with Joubert syndrome 2 in OMIM but this phenotype is not relevant to the neonatal cholestasis panel.Created: 15 Aug 2018, 3:10 p.m.
TMEM216 is associated with Meckel syndrome 2 in OMIM with 3 unrelated cases reported. One of the features of this disorder is bile duct proliferation. However as Genomics Clinician has documented for MKS1 on this panel, although the liver anomalies associated with Meckel syndrome might be expected to result in cholestasis, this is a lethal condition which is unlikely to present with isolated cholestasis.Created: 15 Aug 2018, 1:47 p.m.
Jane Hartley (Birmingham Women and Children's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ciliopathy
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
- Phenotypes
-
- Neonatal and Adult Cholestasis
- Meckel syndrome 2 603194
- OMIM
- 613277
- Clinvar variants
- Variants in TMEM216
- Penetrance
- None
- 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
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: TMEM216 was changed from to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: tmem216 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: tmem216 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: TMEM216 were set to Neonatal and Adult Cholestasis; Meckel syndrome 2 603194
Added New Source
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to TMEM216. Panel: Cholestasis
Added New Source
Ellen McDonagh (Genomics England Curator)TMEM216 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)TMEM216 was created by Ellen McDonagh