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
Sufficient evidence for this gene to be rated green, with phenotype relevant for this panel (Helen Britain, Genomics England)
Created: 7 Aug 2018, 10:08 a.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)
Mental retardation, X-linked 99 300919 XLR; Mental retardation, X-linked 99, syndromic, female-restricted 300968
Source NHS GMS was added to USP9X.
Gene: usp9x has been classified as Green List (High Evidence).
USP9X was added to Hydrocephalus panel. Sources: Literature
USP9X was created by Sarah Leigh