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
Considered green re causation as per CMD panel, however, a phenotype related to the hydrocephalus panel has not been reported in affected cases even though this is relevant to the wider group of muscular dystrophy-dystroglycanopathies. Red but could be promoted if new phenotypic evidence becomes apparent
Created: 9 May 2017, 1:41 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352
Source NHS GMS was added to GMPPB.
31.05.2017 - panel revised after internal curation and clinical review.
GMPPB was added to Hydrocephaluspanel. Sources: Literature
GMPPB was created by helen.brittain