Neurological ciliopathies
Gene: TMEM138

TMEM138 (transmembrane protein 138)
EnsemblGeneIds (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.

Created: 28 Aug 2016, 8:16 a.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.105

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

22282472

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Mar 2016, 1:46 p.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version Imported from "Joubert syndrome" panel version 0.35

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Joubert syndrome with oculorenal defect
Joubert syndrome 16

OMIM

614459

Clinvar variants

Variants in TMEM138

Penetrance

None

Publications

22282472

Panels with this gene

History Filter Activity

25 Jul 2019, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: TMEM138 was added gene: TMEM138 was added to Neurological ciliopathies. Sources: Expert Review Green 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

Neurological ciliopathies Gene: TMEM138