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Cerebral vascular malformations

Gene: JAG1

Red List (low evidence)
JAG1 (jagged 1)
EnsemblGeneIds (GRCh38): ENSG00000101384
EnsemblGeneIds (GRCh37): ENSG00000101384
OMIM: 601920, Gene2Phenotype
JAG1 is in 15 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Combined reviews: Ian Berry (YNELGH) & GEL clinical team (Richard Scott & Helen Brittain) - red in view of lack of a relevant phenotype for this panel
Created: 29 Nov 2019, 7:07 p.m. | Last Modified: 29 Nov 2019, 7:07 p.m.
Panel Version: 1.67
Created: 29 Nov 2019, 7:07 p.m.
Last Modified: 29 Nov 2019, 7:07 p.m.
Panel version: 1.67

Alice Gardham (Genomics England)

Green List (high evidence)

Moyamoya has been reported in several patients with Alagille syndrome
Created: 12 Dec 2016, 4:09 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Alagille syndrome 1, 118450

Publications

Created: 12 Dec 2016, 4:09 p.m.

Panel version: 0.23

History Filter Activity

6 Sep 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: JAG1 were changed from Moyamoya disease; Alagille syndrome 1, 118450 to Alagille syndrome 1, OMIM:118450; Moyamoya disease

29 Nov 2019, Gel status: 1

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to JAG1. Rating Changed from Green List (high evidence) to Red List (low evidence)

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to JAG1.

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to JAG1.

19 Dec 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for JAG1 were set to Moyamoya disease;Alagille syndrome 1, 118450

19 Dec 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for JAG1 were set to 22759690;22759690

19 Dec 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for JAG1 were set to 22759690;22759690

19 Dec 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for JAG1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

19 Dec 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for JAG1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

19 Dec 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

12 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

12 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

2 Nov 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

JAG1 was added to Cerebrovascular disorderspanel. Sources: Expert list

2 Nov 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

JAG1 was created by ellenmcdonagh