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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 |