Fetal anomalies
Gene: TMEM107

TMEM107 (transmembrane protein 107)
EnsemblGeneIds (GRCh38): ENSG00000179029
EnsemblGeneIds (GRCh37): ENSG00000179029
OMIM: 616183, Gene2Phenotype
TMEM107 is in 8 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.

Panel Version: 1.836

Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Associated with relevant phenotype in OMIM, but not in Gen2Phen at present. Biallelic variants identified in at least 5 unrelated families with a range of ciliopathic defects including oral-facial-digital syndrome (PMID: 26518474 and 26595381), Meckel-Gruber syndrome (PMID: 26123494), and Joubert syndrome (PMID: 26595381).

Phenotype is fetally-relevant in the two unrelated MKS-13 infants, although it should be noted that they were found to share a single haplotype (founder effect), as well as the OFD syndrome cases.

Rating Amber but should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 15 Jan 2021, 3:31 p.m. | Last Modified: 15 Jan 2021, 3:51 p.m.

Panel Version: 1.147

Created: 15 Jan 2021, 3:31 p.m.
Last Modified: 15 Jan 2021, 3:51 p.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

2 unrelated infants, born of consanguineous Saudi parents, with Meckel syndrome-13 (PMID: 26123494)
1 patient with oro-facio-digital syndrome, and a mouse model with ciliopathy phenotype (PMID: 26518474)
1 man with Jouberts syndrome and female twins (from an unrelated family) with orofaciodigital syndrome. Additional functional studies. (PMID: 26595381)

NB: Currently Green on rare multisystem/renal/neurological ciliopathies panels. We report variants in this gene on our postnatal ciliopathies panel at GOSH/NTGLH
Sources: Literature, NHS GMS
Created: 9 Sep 2020, 3:28 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Joubert syndrome 29; Meckel syndrome 13; Orofaciodigital syndrome XVI

Publications

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

Created: 9 Sep 2020, 3:28 p.m.

Panel version: 1.95

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Joubert syndrome 29, OMIM:617562
Meckel syndrome 13, OMIM:617562
Meckel syndrome 13, MONDO:0033044
Orofaciodigital syndrome XVI, OMIM:617563
Orofaciodigital syndrome 16, MONDO:0033045

OMIM

616183

Clinvar variants

Variants in TMEM107

Penetrance

None

Publications

Panels with this gene