Renal ciliopathies

Gene: TMEM138

Green List (high evidence)

TMEM138 (transmembrane protein 138)
EnsemblGeneIds (GRCh38): ENSG00000149483
EnsemblGeneIds (GRCh37): ENSG00000149483
OMIM: 614459, Gene2Phenotype
TMEM138 is in 18 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)

Green List (high evidence)

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

History Filter Activity

10 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: TMEM138 was added gene: TMEM138 was added to Renal ciliopathies. Sources: Other,Expert list,Expert Review Green,Orphanet Mode of inheritance for gene: TMEM138 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM138 were set to 22282472 Phenotypes for gene: TMEM138 were set to Joubert syndrome with oculorenal defect; Joubert syndrome 16