Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Gene: OFD1
Review and Red rating from Kate Tatton-Brown April 2017: Although unequivocally an OMIM morbid gene, I don't think OFD1 would be considered an overgrowth geneCreated: 31 May 2019, 11:17 a.m.
Comment on mode of inheritance: Confirmed with reviewer.Created: 29 Mar 2016, 3:48 p.m.
Comment on mode of inheritance: Should this be biallelic in females? (X-linked recessive).Created: 29 Mar 2016, 1:37 p.m.
Comment on list classification: Richard Scott (North Thames GMC/UCL) therefore promoted to green from red. It is a confirmed DD gene for Simpson-Golabi-Behmel syndrome.Created: 29 Mar 2016, 1:36 p.m.
Publications for gene: OFD1 were set to PMID: 23036093
Mode of inheritance for OFD1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mode of inheritance for OFD1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mode of inheritance for OFD1 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
This gene has been classified as Green List (High Evidence).
OFD1 was created by ellenmcdonagh
OFD1 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorderspanel. Sources: Radboud University Medical Center, Nijmegen, Expert Review Green