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Prepair 1000+

Gene: TMEM216

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

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Allelic ciliopathy disorders.

JBTS characterized by molar tooth sign on brain MRI, hypotonia, dev delay, oculomotor apraxia, and breathing abnormalities.

Meckel syndrome: Lethal in utero or perinatal lethal. Common features include encephalocele, cystic kidneys, bile duct proliferation, and polydactyly.(OMIM)

Jewish founder variant R73L; reported in both JBTS and Meckel syndrome families, including one family with both conditions.
Created: 20 Jan 2025, 10 p.m. | Last Modified: 20 Jan 2025, 10 p.m.
Panel Version: 1.1257

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 2, MIM#608091; Meckel syndrome 2, MIM#603194; Retinitis pigmentosa 98, MIM#620996; ciliopathy MONDO:0005308

Publications

Created: 20 Jan 2025, 10 p.m.
Last Modified: 20 Jan 2025, 10 p.m.
Panel version: 1.1257

History Filter Activity

24 Jan 2025, 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 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TMEM216 were changed from Joubert syndrome 2, 608091 (3) to Joubert syndrome 2, MIM#608091; Meckel syndrome 2, MIM#603194; Retinitis pigmentosa 98, MIM#620996; ciliopathy MONDO:0005308

24 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TMEM216 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Joubert syndrome 2, 608091 (3) for gene: TMEM216

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMEM216 was added gene: TMEM216 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM216 were set to Joubert syndrome 2, 608091 (3)