Rare multisystem ciliopathy disorders
Gene: TMEM107

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with abnormal cilial features in OMIM, not in G2P. At least 4 variants reported (i) c.274+1G-A, NM_032354.3 as a homozygote in two apparently unrelated infants with Meckel syndrome-13 (MIM 617562) and shared haplotype (founder effect)(PMID 26123494), (ii) c.316delTTC, NM_032354.3 as homozygote in a Orofaciodigital syndrome XVI (MIM 617563)(PMID 26518474) and also as a compound heterozygote with (iii) p.L134Ffs*8 in a patient with Joubert syndrome 29 (MIM 617562)(PMID 26595381) and (iv) p.E45G as a homozygote in twins with Orofaciodigital syndrome XVI (MIM 617563)(PMID 26595381). Clinical expert opinion: Helen Britain (Genomics England) stated that the different conditions mentioned above may be grouped for gene rating evidence based upon the spectrum and large clinical / aetiological overlap between them.

Created: 22 Aug 2017, 10:50 a.m.

Created: 17 Aug 2017, 2:04 p.m.

Panel version: 1.34

Alice Gardham (Genomics England)

Comment on list classification: Not known to be associated with disease in humans
Created: 25 Jan 2017, 9:43 a.m.

Created: 25 Jan 2017, 9:43 a.m.

Panel version: 0.437

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

?Joubert syndrome 29 617562
Meckel syndrome 13 617562
Orofaciodigital syndrome XVI 617563

OMIM

616183

Clinvar variants

Variants in TMEM107

Penetrance

Complete

Publications

Panels with this gene