Pigmentary skin disordersGene: OFD1
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: OFD1; Suggested initial gene rating: Red; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 11:31 a.m.
Source London North GLH was added to OFD1.
gene: OFD1 was added gene: OFD1 was added to Pigmentary skin disorders. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: OFD1 was set to Phenotypes for gene: OFD1 were set to Terminal osseous dysplasia with pigmentary defects