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  3. TMEM216
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Structural eye disease

Gene: TMEM216

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

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

Brooks: one family with coloboma; Valente: three families
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 2; Meckel syndrome 2; 608091; 603194

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Promoted from amber to green based on expert review.
Created: 21 Jun 2019, 1:05 p.m. | Last Modified: 21 Jun 2019, 1:05 p.m.
Panel Version: 0.78
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Brooks: one family with coloboma; Valente: three families
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 2, 608091; Meckel syndrome 2, 603194

Publications

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.48

History Filter Activity

21 Jun 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tmem216 has been classified as Green List (High Evidence).

17 Apr 2019, Gel status: 2

Added New Source, Added New Source, Set Phenotypes, Set publications, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TMEM216. Source Expert Review Amber was added to TMEM216. Added phenotypes Joubert syndrome 2, 608091; Meckel syndrome 2, 603194 for gene: TMEM216 Publications for gene TMEM216 were changed from 20036350; 22282472; 20512146 to 30055837; 20512146 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: TMEM216 was added gene: TMEM216 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM216 were set to 20036350; 22282472; 20512146 Phenotypes for gene: TMEM216 were set to Joubert syndrome; Meckel-Gruber syndrome