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  3. TMEM216
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Fetal anomalies

Gene: TMEM216

Green List (high evidence)
TMEM216 (transmembrane protein 216)
EnsemblGeneIds (GRCh38): ENSG00000187049
EnsemblGeneIds (GRCh37): ENSG00000187049
OMIM: 613277, Gene2Phenotype
TMEM216 is in 19 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

p.Arg73Leu is a founder Jewish variant.

Multiple families reported with JBTS and with Meckel syndrome.
Created: 27 Mar 2021, 2:27 a.m. | Last Modified: 27 Mar 2021, 2:27 a.m.
Panel Version: 0.155

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 2, MIM# 608091; Meckel syndrome 2, MIM# 603194

Publications

Created: 27 Mar 2021, 2:27 a.m.
Last Modified: 27 Mar 2021, 2:27 a.m.
Panel version: Imported from Joubert syndrome and other neurological ciliopathies panel version 0.155

Paul De Fazio (Victorian Clinical Genetics Services)

Red List (low evidence)

This gene is associated with Joubert syndrome.

Only one individual was described with polymicrogyria out of 14 Joubert syndrome families reported with homozygous/compound heterozygous variants in PMID:20512146. This gene is said to be associated with "variable PMG" in GeneReviews (https://www.ncbi.nlm.nih.gov/books/NBK1329/) but I can only find the one individual in the literature.
Created: 26 Aug 2020, 1:17 a.m. | Last Modified: 26 Aug 2020, 1:17 a.m.
Panel Version: 0.97

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 2 (MIM#608091)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 26 Aug 2020, 1:17 a.m.
Last Modified: 26 Aug 2020, 1:17 a.m.
Panel version: Imported from Polymicrogyria and Schizencephaly panel version 0.97

History Filter Activity

18 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem216 has been classified as Green List (High Evidence).

18 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TMEM216 were changed from Meckel syndrome 2, OMIM:603194; Meckel syndrome, type 2, MONDO:0011296 to Joubert syndrome 2, MIM# 608091; Meckel syndrome 2, OMIM:603194; Meckel syndrome, type 2, MONDO:0011296

18 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem216 has been classified as Green List (High Evidence).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMEM216 was added gene: TMEM216 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM216 were set to 20512146; 20036350 Phenotypes for gene: TMEM216 were set to Meckel syndrome 2, OMIM:603194; Meckel syndrome, type 2, MONDO:0011296