Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Cerebral vascular malformations v2.27 EPHB4 Ivone Leong Phenotypes for gene: EPHB4 were changed from Capillary malformation-arteriovenous malformation 2, 618196 to Capillary malformation-arteriovenous malformation 2, OMIM:618196
Cerebral vascular malformations v1.67 EPHB4 Louise Daugherty Source Yorkshire and North East GLH was added to EPHB4.
Cerebral vascular malformations v1.65 EPHB4 Louise Daugherty Source NHS GMS was added to EPHB4.
Cerebral vascular malformations v1.60 EPHB4 Louise Daugherty Classified gene: EPHB4 as Amber List (moderate evidence)
Cerebral vascular malformations v1.60 EPHB4 Louise Daugherty Added comment: Comment on list classification: New Amber gene - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.60 EPHB4 Louise Daugherty Gene: ephb4 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v1.59 EPHB4 Louise Daugherty commented on gene: EPHB4: New gene rated Amber - deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.59 EPHB4 Louise Daugherty gene: EPHB4 was added
gene: EPHB4 was added to Cerebral vascular malformations. Sources: Expert list
Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EPHB4 were set to Capillary malformation-arteriovenous malformation 2, 618196
Review for gene: EPHB4 was set to AMBER
Added comment: Review from clinical expert (Vijeya Ganesan: GOSH / ICH): consider for this panel. GEL clinical team (Helen Brittain) Review of PMID 28687708 suggests that 3/110 patients had CNS lesions - therefore rated as amber pending further evidence
Sources: Expert list