1. Panels
  2. Glaucoma (developmental)
  3. TMEM216
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Glaucoma (developmental)

Gene: TMEM216

Red List (low 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: Imported from Structural eye disease 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: Imported from Structural eye disease panel version 0.48

History Filter Activity

27 Apr 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.

11 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

TMEM216 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory