Deafness and congenital structural abnormalities
Gene: OFD1Comment on list classification: Green gene on the Familial hemifacial microsomia (Version 0.148) gene panels which was combined to create this panel. No current expert review.Created: 14 Oct 2016, 12:09 p.m.
Comment when marking as ready: Associated with phenotypes in OMIM and G2P / DD. At least six variants reported in Orofaciodigital syndrome type 1, 311200.Created: 14 Sep 2016, 8:47 a.m.
Comment on phenotypes: Also associated with Retinitis pigmentosa 23 300424, Joubert syndrome 10 300804, Simpson-Golabi-Behmel syndrome, type 2 300209Created: 14 Sep 2016, 8:44 a.m.
26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.
This gene has been classified as Green List (High Evidence).
OFD1 was added to Deafness and congenital structural abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
OFD1All sources for gene: OFD1 were removed
OFD1 was added to Deafness and congenital structural abnormalitiespanel. Source: Expert Review Green
OFD1 was added to Deafness and congenital structural abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory,Expert Review Amber
OFD1 was created by sleigh