As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Hydrocephalus is not a consistent feature. Identified in zebrafish model but in view of lack of clear link in humans, not for this panel on current evidence.
Created: 9 May 2017, 1:22 p.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)
Orofaciodigital syndrome I
Source NHS GMS was added to OFD1.
31.05.2017 - panel revised after internal curation and clinical review.
OFD1 was added to Hydrocephaluspanel. Source: Expert Review Red
OFD1 was added to Hydrocephaluspanel. Sources: Literature
OFD1 was created by helen.brittain