Glaucoma (developmental)
Gene: TMEM237EnsemblGeneIds (GRCh38): ENSG00000155755
EnsemblGeneIds (GRCh37): ENSG00000155755
OMIM: 614423, Gene2Phenotype
TMEM237 is in 19 panels
2 reviews
Ivone Leong (Genomics England Curator)
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 familyCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 14, 614424
Publications
Details
- Sources
-
- Expert Review Green
- NHS GMS
- Emory Genetics Laboratory
- Phenotypes
-
- Eye Disorders
- OMIM
- 614423
- Clinvar variants
- Variants in TMEM237
- Penetrance
- Complete
- Panels with this gene
-
- Structural eye disease
- Skeletal dysplasia
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Retinal disorders
- DDG2P
- Fetal anomalies
- Ocular coloboma
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
History Filter Activity
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.
Added New Source
Eik Haraldsdottir (Genomics England)TMEM237 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory