Joubert syndrome

Gene: TMEM138

Red List (low evidence)

TMEM138 (transmembrane protein 138)
EnsemblGeneIds (GRCh38): ENSG00000149483
EnsemblGeneIds (GRCh37): ENSG00000149483
OMIM: 614459, Gene2Phenotype
TMEM138 is in 16 panels

1 review

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

17 Nov 2016, Gel status: 0

Approved Gene

Alice Gardham (Genomics England)

This proposed gene was validated and added to this panel

16 Mar 2016, Gel status: 0

Created

Penny Clouston (Oxford)

TMEM138 was created by PennyC

16 Mar 2016, Gel status: 0

Added New Source

Penny Clouston (Oxford)

TMEM138 was added to Joubert syndromepanel. Sources: Expert Review