Neurological ciliopathiesGene: TMEM107
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.
Comment on list classification: Not known to be associated with disease in humans
Created: 25 Jan 2017, 9:43 a.m.
gene: TMEM107 was added gene: TMEM107 was added to Neurological ciliopathies. Sources: 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