Hydrocephalus

Gene: GFAP

I don't know

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

Green List (high evidence)

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

• 12034785