Syndromic Retinopathy
Gene: TMEM237
TMEM237 (transmembrane protein 237)
EnsemblGeneIds (GRCh38): ENSG00000155755
EnsemblGeneIds (GRCh37): ENSG00000155755
OMIM: 614423, Gene2Phenotype
TMEM237 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000155755
EnsemblGeneIds (GRCh37): ENSG00000155755
OMIM: 614423, Gene2Phenotype
TMEM237 is in 16 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association.Created: 16 Apr 2020, 7:51 a.m. | Last Modified: 20 Aug 2020, 11:36 p.m.
Panel Version: 0.3859
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 14, MIM# 614424
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- RetNet
- Expert Review Green
- Victorian Clinical Genetics Services
- OMIM
- 614423
- Clinvar variants
- Variants in TMEM237
- Penetrance
- None
- Panels with this gene
-
- Joubert syndrome and other neurological ciliopathies
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Prepair 1000+
- BabyScreen+ newborn screening
- Renal Ciliopathies and Nephronophthisis
- Intellectual disability syndromic and non-syndromic
- Regression
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Syndromic Retinopathy
- Prepair 500+
- Ataxia - paediatric
History Filter Activity
7 Feb 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)gene: TMEM237 was added gene: TMEM237 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal