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
Hydrocephalus is not a clear feature. Microcephaly and intracranial calcification are key features, along with ID. Not likely to be ascertained via this route.
Created: 9 May 2017, 1:23 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Aicardi-Goutieres syndrome 4
Source NHS GMS was added to RNASEH2A.
31.05.2017 - panel revised after internal curation and clinical review.
RNASEH2A was added to Hydrocephaluspanel. Source: Expert Review Red
RNASEH2A was added to Hydrocephaluspanel. Sources: Literature
RNASEH2A was created by helen.brittain