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
Associated with phenotype in OMIM and as a probable G2P. At least 6 variants reported in at least 6 unrelated cases.
Created: 19 Dec 2017, 4:49 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Shashi-Pena syndrome 617190
Source NHS GMS was added to ASXL2.
ASXL2 was added to Hydrocephalus panel. Sources: Literature
ASXL2 was created by Sarah Leigh