Joubert syndrome

Gene: TMEM231

Red List (low evidence)

TMEM231 (transmembrane protein 231)
EnsemblGeneIds (GRCh38): ENSG00000205084
EnsemblGeneIds (GRCh37): ENSG00000205084
OMIM: 614949, Gene2Phenotype
TMEM231 is in 20 panels

1 review

Penny Clouston (Oxford)

On current diagnostic panel; no positive families in patient cohort to date. Evidence from literature.
Created: 16 Mar 2016, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Added New Source

Penny Clouston (Oxford)

TMEM231 was added to Joubert syndromepanel. Sources: Expert Review

16 Mar 2016, Gel status: 0


Penny Clouston (Oxford)

TMEM231 was created by PennyC