Joubert syndrome

Gene: TMEM216

Red List (low evidence)

TMEM216 (transmembrane protein 216)
EnsemblGeneIds (GRCh38): ENSG00000187049
EnsemblGeneIds (GRCh37): ENSG00000187049
OMIM: 613277, Gene2Phenotype
TMEM216 is in 16 panels

1 review

Penny Clouston (Oxford)

Green List (high evidence)

On current diagnostic panel; positive families in patient cohort. Evidence from the literature.
Common Ashkenazi Jewish variant.
16 Mar 2016, 3:25 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome: Meckel-Gruber 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)

TMEM216 was created by PennyC

16 Mar 2016, Gel status: 0

Added New Source

Penny Clouston (Oxford)

TMEM216 was added to Joubert syndromepanel. Sources: Expert Review