Renal ciliopathies

Gene: TMEM231

Green List (high evidence)

TMEM231 (transmembrane protein 231)
EnsemblGeneIds (GRCh38): ENSG00000205084
EnsemblGeneIds (GRCh37): ENSG00000205084
OMIM: 614949, Gene2Phenotype
TMEM231 is in 19 panels

2 reviews

Alice Gardham (Genomics England)

Comment on list classification: 2 Joubert families and 2 families with Meckel syndrome. offered on GOS panel
Created: 19 Jan 2017, 4:38 p.m.

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

10 Jul 2019, Gel status: 3

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

Eleanor Williams (Genomics England Curator)

gene: TMEM231 was added gene: TMEM231 was added to Renal ciliopathies. Sources: Emory Genetics Laboratory,Other,Expert list,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM231 were set to Meckel syndrome; Joubert syndrome 20; Joubert syndrome with oculorenal defect; Joubert syndrome 20, 614970; Meckel syndrome 11, 615397