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 Amber
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Causation is confirmed. Hydrocephalus appears to be a relatively rare feature however.
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)
Otopalatodigital syndrome, type II
Source NHS GMS was added to FLNA.
31.05.2017 - panel revised after internal curation and clinical review.
FLNA was added to Hydrocephaluspanel. Source: Expert Review Amber
FLNA was added to Hydrocephaluspanel. Sources: Literature
FLNA was created by helen.brittain