Skeletal dysplasia

Gene: OFD1

Green List (high evidence)

Dysostoses with predominant craniofacial involvement gp of SD - several cases; Review on behalf of Tracy Lester

Created: 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

I don't know

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: green

Created: 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 300209

Created: 29 Jul 2016, 11:12 a.m.

Comment on phenotypes: Variant reported in one Retinitis pigmentosa 23 300424 patient

Created: 29 Jul 2016, 11:11 a.m.

Comment on mode of inheritance: Both X-linked recessive and dominant

Created: 29 Jul 2016, 11:10 a.m.

Green List (high evidence)

Tier 2

Created: 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