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
4 families in PMID referenced. Hydrocephalus and macrocephaly reported but not in all. Hearing loss is consistent feature in described cases to date
Created: 9 May 2017, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPSM2 were changed from Chudley-McCullough syndrome to Chudley-McCullough syndrome, OMIM:604213
Source NHS GMS was added to GPSM2.
31.05.2017 - panel revised after internal curation and clinical review.
This gene has been classified as Green List (High Evidence).
GPSM2 was added to Hydrocephaluspanel. Source: Expert Review Green
GPSM2 was created by helen.brittain
GPSM2 was added to Hydrocephaluspanel. Sources: Literature