Renal ciliopathies

Gene: TMEM107

Green List (high evidence)

TMEM107 (transmembrane protein 107)
EnsemblGeneIds (GRCh38): ENSG00000179029
EnsemblGeneIds (GRCh37): ENSG00000179029
OMIM: 616183, Gene2Phenotype
TMEM107 is in 10 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.

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Meckel syndrome 13 617562
  • ?Joubert syndrome 29 617562
  • Orofaciodigital syndrome XVI 617563
OMIM
616183
Clinvar variants
Variants in TMEM107
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jul 2019, Gel status: 3

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

Eleanor Williams (Genomics England Curator)

gene: TMEM107 was added gene: TMEM107 was added to Renal ciliopathies. Sources: Expert list,Expert Review Green Mode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM107 were set to 26518474; 26123494; 22698544; 26595381 Phenotypes for gene: TMEM107 were set to Meckel syndrome 13 617562; ?Joubert syndrome 29 617562; Orofaciodigital syndrome XVI 617563