Cerebral vascular malformations
Gene: JAG1
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
Phenotypes for gene: JAG1 were changed from Moyamoya disease; Alagille syndrome 1, 118450 to Alagille syndrome 1, OMIM:118450; Moyamoya disease
Source Expert Review Red was added to JAG1. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source Yorkshire and North East GLH was added to JAG1.
Source NHS GMS was added to JAG1.
Phenotypes for JAG1 were set to Moyamoya disease;Alagille syndrome 1, 118450
Publications for JAG1 were set to 22759690;22759690
Publications for JAG1 were set to 22759690;22759690
Mode of inheritance for JAG1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for JAG1 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).
JAG1 was added to Cerebrovascular disorderspanel. Sources: Expert list
JAG1 was created by ellenmcdonagh