Hydrocephalus
Gene: GFAP
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 GreenCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Comment when marking as ready: Discussed with Richard Scott - appropriate for inclusion.Created: 22 May 2017, 2:56 p.m.
Comment when marking as ready: Sufficient evidence of causation. Megalencephaly a recurrent feature.Created: 4 May 2017, 8:16 a.m.
From OMIM "Gorospe et al. (2002) reported 12 genetically confirmed cases of Alexander disease. Seven of the 12 had onset in infancy (range 2-18 months), with seizures being the most common presenting sign, followed by failure to thrive and delayed motor development. Five patients had juvenile onset (between 5 and 9 years) and presented with variable symptoms ranging from asymptomatic (2 patients) to linear growth failure, excessive sleepiness and vomiting. Patients in both groups showed megalencephaly..."
In view of the presence of megalencephaly and occasional hydrocephalus, include even though seizures / ID may lead to the majority presenting via other routes.Created: 4 May 2017, 8:14 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Alexander disease 203450
Publications
Phenotypes for gene: GFAP were changed from Alexander disease 203450 to Alexander disease, OMIM:203450
Source NHS GMS was added to GFAP.
31.05.2017 - panel revised after internal curation and clinical review.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for GFAP were set to Alexander disease 203450
Publications for GFAP were set to 12034785
This gene has been classified as Green List (High Evidence).
GFAP was added to Hydrocephaluspanel. Source: Illumina TruGenome Clinical Sequencing Services
GFAP was created by oniblock
GFAP was added to Hydrocephaluspanel. Sources: Radboud University Medical Center, Nijmegen