Cystic kidney disease
Gene: TMEM231EnsemblGeneIds (GRCh38): ENSG00000205084
EnsemblGeneIds (GRCh37): ENSG00000205084
OMIM: 614949, Gene2Phenotype
TMEM231 is in 18 panels
2 reviews
Ellen Thomas (Genomics England Curator)
Comment on list classification: Syndromic, not relevant for this panel.Created: 10 May 2016, 12:43 p.m.
Details
- Sources
-
- Expert Review Red
- Expert
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- OMIM
- 614949
- Clinvar variants
- Variants in TMEM231
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Ophthalmological ciliopathies
- Renal ciliopathies
- Neurological ciliopathies
- Limb disorders
- Cystic kidney disease
- Retinal disorders
- Ocular coloboma
- Skeletal dysplasia
- Familial Neural Tube Defects
- Unexplained kidney failure in young people
- Dystonia, chorea or related movement disorder, childhood onset
- Ductal plate malformation
- Structural eye disease
- Rare multisystem ciliopathy disorders
- Fetal anomalies
- Thoracic dystrophies
- Primary ciliary disorders
History Filter Activity
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)TMEM231 was added to Cystic kidney diseasepanel. Sources: Expert