As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
3 unrelated families reported with mutations, others have had biochemical investigation in the past. Complex phenotype but ventricular dilatation is a feature.
Created: 9 May 2017, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to DHCR24.
31.05.2017 - panel revised after internal curation and clinical review.
This gene has been classified as Green List (High Evidence).
DHCR24 was added to Hydrocephaluspanel. Source: Expert Review Green
DHCR24 was created by helen.brittain
DHCR24 was added to Hydrocephaluspanel. Sources: Literature