Rare multisystem ciliopathy disorders
Gene: TMEM138EnsemblGeneIds (GRCh38): ENSG00000149483
EnsemblGeneIds (GRCh37): ENSG00000149483
OMIM: 614459, Gene2Phenotype
TMEM138 is in 15 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to expert review. PMID: 22282472 - different homozygous variants reported in Joubert syndrome patients from multiple Arabian families.Created: 28 Aug 2016, 8:16 a.m.
Penny Clouston (Oxford)
On current diagnostic panel; positive families within patient cohort. Evidence from literature.Created: 16 Mar 2016, 1:46 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
-
- Other
- Orphanet
- Expert Review Green
- Expert list
- Phenotypes
-
- Joubert syndrome with oculorenal defect
- Joubert syndrome 16
- OMIM
- 614459
- Clinvar variants
- Variants in TMEM138
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Fetal anomalies
- Ocular coloboma
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Structural eye disease
- Skeletal dysplasia
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Added New Source
Ellen McDonagh (Genomics England Curator)TMEM138 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
Added New Source
Ellen McDonagh (Genomics England Curator)TMEM138 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for TMEM138 were set to 22282472
Added New Source
Ellen McDonagh (Genomics England Curator)TMEM138 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)TMEM138 was created by ellenmcdonagh