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DDG2P

Gene: TMEM216

Green List (high evidence)
TMEM216 (transmembrane protein 216)
EnsemblGeneIds (GRCh38): ENSG00000187049
EnsemblGeneIds (GRCh37): ENSG00000187049
OMIM: 613277, Gene2Phenotype
TMEM216 is in 22 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for TMEM216-related Joubert syndrome are strong, biallelic_autosomal and undetermined (PMIDs: 20036350, 20512146). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00552.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease JOUBERT SYNDROME 2, OMIM:608091 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 20036350;20512146).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MONDO:0011963; TMEM216-related Joubert syndrome; JOUBERT SYNDROME 2, OMIM:608091; OMIM:608091.0

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:31 a.m.
Created: 19 Nov 2018, 11:31 a.m.

Panel version: 0.2

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: TMEM216 was changed from Other to None

4 Oct 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to TMEM216. Mode of pathogenicity for gene TMEM216 was changed from Other - please provide details in the comments to Other Publications for gene: TMEM216 were updated from 20036350; 20512146 to 20512146; 20036350 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: TMEM216 was added gene: TMEM216 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM216 were set to 20036350; 20512146 Phenotypes for gene: TMEM216 were set to JOUBERT SYNDROME 2 608091 Mode of pathogenicity for gene: TMEM216 was set to Other - please provide details in the comments