Neonatal cholestasis

Gene: TMEM216

Amber List (moderate evidence)

TMEM216 (transmembrane protein 216)
EnsemblGeneIds (GRCh38): ENSG00000187049
EnsemblGeneIds (GRCh37): ENSG00000187049
OMIM: 613277, Gene2Phenotype
TMEM216 is in 26 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Based on reviewer's comments
Created: 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 syndrome
Created: 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)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ciliopathy

History Filter Activity

3 Sep 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

21 Aug 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: TMEM216 was changed from to BIALLELIC, autosomal or pseudoautosomal

21 Aug 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: tmem216 has been classified as Amber List (Moderate Evidence).

15 Aug 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: tmem216 has been classified as Amber List (Moderate Evidence).

15 Aug 2018, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: TMEM216 were set to Neonatal and Adult Cholestasis; Meckel syndrome 2 603194

21 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to TMEM216. Panel: Cholestasis

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TMEM216 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

TMEM216 was created by Ellen McDonagh