Limb disorders
Gene: OFD1Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.Created: 2 Dec 2018, 11:09 p.m.
Comment on mode of inheritance: Changed from 'other' as this option captures both monoallelic and biallelic variants in females.Created: 3 Apr 2017, 4:58 p.m.
Comment when marking as ready: Associated with phenotypes in OMIM and G2P. At least six variants reported Orofaciodigital syndrome I 311200, three in Joubert syndrome 10 300804 and one in Simpson-Golabi-Behmel syndrome, type 2 300209Created: 29 Jul 2016, 11:12 a.m.
Comment on phenotypes: Variant reported in one Retinitis pigmentosa 23 300424 patientCreated: 29 Jul 2016, 11:11 a.m.
Comment on mode of inheritance: Both X-linked recessive and dominantCreated: 29 Jul 2016, 11:10 a.m.
Tier 2Created: 17 Jun 2016, 8:06 a.m.
Mode of inheritance
Other - please specify in evaluation comments
Phenotypes
?Retinitis pigmentosa 23 300424 XLR; Joubert syndrome 10 300804; Orofaciodigital syndrome I 311200 XLD; Simpson-Golabi-Behmel syndrome, type 2 300209 XLR
Variants in this GENE are reported as part of current diagnostic practice
Tag curated_removed tag was added to gene: OFD1.
Ana Beleza: Tier 2
Gene: ofd1 has been removed from the panel.
Gene: ofd1 has been removed from the panel.
Source Expert Review Removed was added to OFD1. Rating Changed from Green List (high evidence) to No List (delete)
Victorian Clinical Genetics Services was added to OFD1. Panel: Limb disorders Phenotypes for gene OFD1 were set to Joubert syndrome 10 300804, Orofaciodigital syndrome I 311200 XLD, Simpson-Golabi-Behmel syndrome, type 2 300209 XLR, Polydactyly
Expert Review Green was added to OFD1. Panel: Limb disorders UKGTN was added to OFD1. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to OFD1. Panel: Limb disorders Expert list was added to OFD1. Panel: Limb disorders Emory Genetics Laboratory was added to OFD1. Panel: Limb disorders Model of inheritance for gene OFD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
London South East RGC GSTT was added to OFD1. Panel: Limb disorders
OFD1 was added to Limb disorders panel. Sources: Viapath
OFD1 was created by Ellen McDonagh