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
Clear causation for NANS and the phenotype (9 cases from 6 unrelated families) but not considered appropriate for this panel. Hydrocephalus, of prenatal onset is reported in one case, but the recurrent features of SEMD and ID would be clearer presenting features for ascertaining this phenotype. I will arrange to add NANS under skeletal dysplasia and ID as appropriate.
Created: 9 May 2017, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Spondyloepimetaphyseal dysplasia, Camera-Genevieve type
Source NHS GMS was added to NANS.
31.05.2017 - panel revised after internal curation and clinical review.
NANS was added to Hydrocephaluspanel. Source: Expert Review Red
NANS was created by helen.brittain
NANS was added to Hydrocephaluspanel. Sources: Literature