Rare multisystem ciliopathy disorders
Gene: TMEM107Comment 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 humansCreated: 25 Jan 2017, 9:43 a.m.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for TMEM107 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for TMEM107 were set to ?Joubert syndrome 29 617562;Meckel syndrome 13 617562; Orofaciodigital syndrome XVI 617563
Publications for TMEM107 were set to 22698544; 26595381; 26518474; 26123494
This gene has been classified as Green List (High Evidence).
Promoted to version 1 by Alice Gardham on 26th January 2017
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
TMEM107 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
TMEM107 was created by ellenmcdonagh