Renal Ciliopathies and Nephronophthisis
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)

I don't know

Renal phenotype observed in MKS.
Created: 17 Jul 2021, 8:22 a.m. | Last Modified: 17 Jul 2021, 8:22 a.m.

Panel Version: 0.288

Created: 17 Jul 2021, 8:22 a.m.
Last Modified: 17 Jul 2021, 8:22 a.m.
Panel version: 0.288

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 Amber
KidGen_CilioNephronop v38.1.0

Phenotypes

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

OMIM

616183

Clinvar variants

Variants in TMEM107

Penetrance

None

Publications

Panels with this gene