Cystic kidney disease
Gene: TMEM138
TMEM138 (transmembrane protein 138)
EnsemblGeneIds (GRCh38): ENSG00000149483
EnsemblGeneIds (GRCh37): ENSG00000149483
OMIM: 614459, Gene2Phenotype
TMEM138 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000149483
EnsemblGeneIds (GRCh37): ENSG00000149483
OMIM: 614459, Gene2Phenotype
TMEM138 is in 15 panels
2 reviews
Ellen Thomas (Genomics England Curator)
Comment on list classification: Syndromic, not relevant for this panel.Created: 10 May 2016, 12:42 p.m.
Miranda Durkie (Genetics)
No current test experience but this gene is on the list for an extended panel.
Created: 26 Oct 2015, 3:49 p.m.
Phenotypes
Jouberts syndrome type 16
Publications
Details
- Sources
-
- Expert Review Red
- Expert
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- OMIM
- 614459
- Clinvar variants
- Variants in TMEM138
- Penetrance
- Complete
- Panels with this gene
-
- Ophthalmological ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Ocular coloboma
- Skeletal dysplasia
- Structural eye disease
- Neurological ciliopathies
- Fetal anomalies
- Cystic kidney disease
- Unexplained kidney failure in young people
- Ductal plate malformation
- Thoracic dystrophies
- Primary ciliary disorders
- Limb disorders
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
History Filter Activity
10 May 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
10 May 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
15 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)TMEM138 was added to Cystic kidney diseasepanel. Sources: Expert