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  3. TMEM237
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Structural eye disease

Gene: TMEM237

Green List (high evidence)
TMEM237 (transmembrane protein 237)
EnsemblGeneIds (GRCh38): ENSG00000155755
EnsemblGeneIds (GRCh37): ENSG00000155755
OMIM: 614423, Gene2Phenotype
TMEM237 is in 19 panels

2 reviews

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

Green List (high evidence)

Huang: two families with coloboma, Brooks one family
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 14; 614424

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, 1:06 p.m. | Last Modified: 21 Jun 2019, 1:06 p.m.
Panel Version: 0.79
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Huang: two families with coloboma, Brooks one family
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 14, 614424

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: tmem237 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 TMEM237. Source Expert Review Amber was added to TMEM237. Added phenotypes Joubert syndrome 14, 614424 for gene: TMEM237 Publications for gene TMEM237 were changed from 22152675 to 30055837; 22152675 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: TMEM237 was added gene: TMEM237 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM237 were set to 22152675 Phenotypes for gene: TMEM237 were set to Joubert syndrome