Thoracic dystrophies
Gene: TMEM107Comment on list classification: 2 cases reported with different variants (PMID:28289185, 24901346) and functional in vivo evidence.Created: 31 May 2017, 9:05 a.m.
Comment on publications: The case reported in PMID: 24901346 is the same case investigated in PMID: 26518474.Created: 31 May 2017, 9:05 a.m.
Phenotypes
OFD
Phenotypes
OFD
31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.
Mode of inheritance for TMEM107 was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for TMEM107 were set to 26595381; 26518474; 26123494; 28289185;24901346
This gene has been classified as Amber List (Moderate Evidence).
Publications for TMEM107 were set to 26595381; 26518474; 26123494;28289185
Phenotypes for TMEM107 were set to Meckel-Gruber syndrome;Orofaciodigital syndrome
Publications for TMEM107 were set to 26595381; 26518474; 26123494
Publications for TMEM107 were set to 26595381;26518474
Publications for TMEM107 were set to 26595381
This proposed gene was validated and added to this panel
TMEM107 was added to Thoracic dystrophiespanel. Sources: Expert Review
TMEM107 was created by hmitchis