Ophthalmological ciliopathies
Gene: TMEM237
TMEM237 (transmembrane protein 237)
EnsemblGeneIds (GRCh38): ENSG00000155755
EnsemblGeneIds (GRCh37): ENSG00000155755
OMIM: 614423, Gene2Phenotype
TMEM237 is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000155755
EnsemblGeneIds (GRCh37): ENSG00000155755
OMIM: 614423, Gene2Phenotype
TMEM237 is in 19 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to expert review. Homozygous ARG18TER (rs199469707) was identified in Canadian Hutterite patients with Joubert syndrome-14. The variant is found in Canadian Hutterites and Schmiedeleut (S-leut) Hutterites in the US. Additional variants within this gene have been reported in patients with Joubert syndrome with Austrian, Jordanian and European descent. An intergenic MPP4 to TMEM237 deletion that included exons spanning at least 21.5 kb was reported in an exome study of Joubert and Meckel-Gruber syndrome patients (PMID: 26729329).Created: 28 Aug 2016, 8:57 a.m.
Penny Clouston (Oxford)
On current diagnostic panel; no positive families in patient cohort to date. Evidence from the literature. Common Canadian Hutterite variant.Created: 16 Mar 2016, 3:39 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Orphanet
- Expert Review Green
- Expert list
- Other
- Phenotypes
-
- Joubert syndrome
- Joubert syndrome with oculorenal defect
- Joubert syndrome 14
- OMIM
- 614423
- Clinvar variants
- Variants in TMEM237
- Penetrance
- None
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Limb disorders
- DDG2P
- Ocular coloboma
- Intellectual disability
- Retinal disorders
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Structural eye disease
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
8 Jul 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: TMEM237 was added gene: TMEM237 was added to Ophthalmological ciliopathies. Sources: Other,Expert list,Expert Review Green,Orphanet Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM237 were set to 22152675; 20301500 Phenotypes for gene: TMEM237 were set to Joubert syndrome; Joubert syndrome with oculorenal defect; Joubert syndrome 14