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
-
- Retinal disorders
- Ophthalmological ciliopathies
- Cystic kidney disease
- Renal ciliopathies
- Ocular coloboma
- Intellectual disability
- Familial Neural Tube Defects
- Childhood onset dystonia, chorea or related movement disorder
- Unexplained kidney failure in young people
- Ductal plate malformation
- Rare multisystem ciliopathy disorders
- Skeletal dysplasia
- Neurological ciliopathies
- Thoracic dystrophies
- Primary ciliary disorders
- Limb disorders
- Structural eye disease
- Fetal anomalies
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