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Fetal anomalies

Gene: TMEM216

Green List (high evidence)
TMEM216 (transmembrane protein 216)
EnsemblGeneIds (GRCh38): ENSG00000187049
EnsemblGeneIds (GRCh37): ENSG00000187049
OMIM: 613277, Gene2Phenotype
TMEM216 is in 22 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 1.836
Comment on list classification: At least 3 reported variants in 6 families with Meckel syndrome, a fetally-relevant phenotype. Therefore, there is sufficient evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag).

TMEM216 is associated with Meckel and Joubert syndrome in OMIM and Gene2Phenotype.
Created: 15 Jan 2021, 5:09 p.m. | Last Modified: 15 Jan 2021, 5:11 p.m.
Panel Version: 1.151
Created: 15 Jan 2021, 5:09 p.m.
Last Modified: 15 Jan 2021, 5:11 p.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

13 individuals from 8 Ashkenazi Jewish families – identified a founder mutation. (PMID: 20036350)
>20 individuals from 20 unrelated families, including fetuses. Also functional studies. (PMID: 20512146)

NB: Currently Amber on FA panel (based on having a probable rating in DDG2P). Still remains Amber on DDG2P but is Green on rare multisystem ciliopathies and skeletal dysplasias (among other panels). Variants in this gene are currently reported on our postnatal ciliopathies panel at GOSH/NTGLH.
Created: 9 Sep 2020, 11:25 a.m. | Last Modified: 9 Sep 2020, 11:25 a.m.
Panel Version: 1.95

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome; Meckel syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 9 Sep 2020, 11:25 a.m.
Last Modified: 9 Sep 2020, 11:25 a.m.
Panel version: 1.95

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for JOUBERT SYNDROME 2
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as All missense/in frame.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.9

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: TMEM216.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to TMEM216. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

15 Jan 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: TMEM216 were set to

15 Jan 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TMEM216 were changed from JOUBERT SYNDROME 2 to Meckel syndrome 2, OMIM:603194; Meckel syndrome, type 2, MONDO:0011296

15 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

15 Jan 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: TMEM216.

8 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: TMEM216 was added gene: TMEM216 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM216 were set to JOUBERT SYNDROME 2