Skeletal dysplasia
Gene: OFD1
Dysostoses with predominant craniofacial involvement gp of SD - several cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Joubert syndrome 10 300804; Orofaciodigital syndrome I 311200 XLD; Simpson-Golabi-Behmel syndrome, type 2 300209 XLR
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: OFD1; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.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
Added phenotypes Joubert syndrome 10 300804; Simpson-Golabi-Behmel syndrome, type 2 300209 XLR; Orofaciodigital syndrome I 311200 XLD for gene: OFD1
Source NHS GMS was added to OFD1. Rating Changed from Green List (high evidence) to Green List (high evidence)
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)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for OFD1 were set to Joubert syndrome 10 300804; Orofaciodigital syndrome I 311200 XLD; Simpson-Golabi-Behmel syndrome, type 2 300209 XLR
Mode of inheritance for OFD1 was changed to Other - please specifiy in evaluation comments
OFD1 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN
OFD1 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory
OFD1 was created by sleigh
OFD1 was added to Unexplained skeletal dysplasiapanel. Sources: