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
Only two families reported to date. Watchlist at present
Created: 9 May 2017, 1:23 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Cole-Carpenter syndrome 2
Source NHS GMS was added to SEC24D.
31.05.2017 - panel revised after internal curation and clinical review.
SEC24D was added to Hydrocephaluspanel. Source: Expert Review Amber
SEC24D was created by helen.brittain
SEC24D was added to Hydrocephaluspanel. Sources: Literature