Cerebral vascular malformations
Gene: NOTCH3
Combined reviews: Ian Berry (YNELGH) & GEL clinical team (Richard Scott & Helen Brittain) - red in view of lack of a relevant phenotype for this panelCreated: 29 Nov 2019, 7:07 p.m. | Last Modified: 29 Nov 2019, 7:07 p.m.
Panel Version: 1.67
Known to cause CADASIL. gain of function mutationsCreated: 8 Dec 2016, 2:12 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310
Publications
Mode of pathogenicity
Other
Phenotypes for gene: NOTCH3 were changed from Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy; Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL); Moyamoya disease; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 ; Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy (CADASIL) to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310
Source Expert Review Red was added to NOTCH3. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source Yorkshire and North East GLH was added to NOTCH3.
Source NHS GMS was added to NOTCH3.
Publications for gene: NOTCH3 were set to 8878478, 20301673
Publications for NOTCH3 were set to 8878478, 20301673
Mode of pathogenicity for NOTCH3 was changed to Other - please provide details in the comments
Promoted to version 1 on the 19th December 2016
NOTCH3 was added to Cerebrovascular disorderspanel. Source: Radboud University Medical Center, Nijmegen
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
NOTCH3 was added to Cerebrovascular disorderspanel. Sources: Expert list,UKGTN,Illumina TruGenome Clinical Sequencing Services
NOTCH3 was created by ellenmcdonagh