Ciliopathies
Gene: TMEM107

TMEM107 (transmembrane protein 107)
EnsemblGeneIds (GRCh38): ENSG00000179029
EnsemblGeneIds (GRCh37): ENSG00000179029
OMIM: 616183, Gene2Phenotype
TMEM107 is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least four unrelated families reported with related ciliopathy phenotypes. Functional data, including mouse model.
Created: 14 May 2020, 6:39 a.m. | Last Modified: 14 May 2020, 6:39 a.m.

Panel Version: 0.143

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meckel syndrome 13 (MIM#617562); Orofaciodigital syndrome XVI (MIM#617563); Joubert syndrome 29 617562

Publications

Created: 14 May 2020, 6:39 a.m.
Last Modified: 14 May 2020, 6:39 a.m.
Panel version: 0.143

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Minimal reports to date. Left as amber for now pending additional reports. Bordeline amber/green

PMID: 26595381; Lambacher 2016: Reported hom (OFDVI female twins) and chet variants (JBTS male) in 2 families. All possesed JBTS-associated molar tooth sign

PMID: 26123494; Shaheen 2015: Same hom splice variant reported in 2 apparently unrelated families (counted as 1). Anaylsis of patient fibroblasts shows ciliogenesis defect.
Sources: Expert Review
Created: 13 May 2020, 2:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meckel syndrome 13 (MIM#617562); Orofaciodigital syndrome XVI (MIM#617563)

Publications

Created: 13 May 2020, 2:48 a.m.

Panel version: Imported from Joubert syndrome and other neurological ciliopathies panel version 0.48

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Meckel syndrome 13 (MIM#617562)
Orofaciodigital syndrome XVI (MIM#617563)
Joubert syndrome 29 617562

OMIM

616183

Clinvar variants

Variants in TMEM107

Penetrance

None

Publications

Panels with this gene