Cerebral vascular malformations
Gene: NF1
Combined reviews: Ian Berry (YNELGH) PMC4337618 suggests 2.5-6% of cases have cerebral arteriopathies. Other features more prominent - borderline. Expert opinion (Vijeya Ganesan- GOSH / ICH) - I would not test for this in the absence of other clinical features. Therefore combined rating = amberCreated: 29 Nov 2019, 7:02 p.m. | Last Modified: 29 Nov 2019, 7:02 p.m.
Panel Version: 1.67
Comment on list classification: Moyamoya is a recognised complication of NF1Created: 12 Dec 2016, 4:28 p.m.
Moyamoya is a recognised complication of NF1Created: 12 Dec 2016, 4:28 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurofibromatosis, type 1 162200
Publications
Phenotypes for gene: NF1 were changed from Moyamoya disease; Neurofibromatosis, type 1 162200 to Moyamoya disease, MONDO:0016820; Neurofibromatosis, type 1, OMIM:162200
Source Expert Review Amber was added to NF1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Source Yorkshire and North East GLH was added to NF1.
Source NHS GMS was added to NF1.
Phenotypes for NF1 were set to Moyamoya disease;Neurofibromatosis, type 1 162200
Publications for NF1 were set to 10754001
Mode of inheritance for NF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Promoted to version 1 on the 19th December 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
NF1 was added to Cerebrovascular disorderspanel. Sources: Expert list
NF1 was created by ellenmcdonagh