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
Single family reported to date. Watchlist required
Created: 9 May 2017, 1:22 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
Source NHS GMS was added to HDAC6.
31.05.2017 - panel revised after internal curation and clinical review.
HDAC6 was added to Hydrocephaluspanel. Source: Expert Review Amber
HDAC6 was created by helen.brittain
HDAC6 was added to Hydrocephaluspanel. Sources: Literature