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Date	Panel	Item	Activity
Filter activities 10 actions
28 Feb 2024	Skeletal dysplasia v4.52	EFNB1	Arina Puzriakova Phenotypes for gene: EFNB1 were changed from Craniofrontonasal dysplasia 304110 to Craniofrontonasal dysplasia, OMIM:304110
26 Feb 2021	Skeletal dysplasia v2.83	EFNB1	Arina Puzriakova Tag curated_removed tag was added to gene: EFNB1.
28 Nov 2019	Skeletal dysplasia v1.249	EFNB1	Eleanor Williams Classified gene: EFNB1 as No list
28 Nov 2019	Skeletal dysplasia v1.249	EFNB1	Eleanor Williams Added comment: Comment on list classification: Making this gene grey as there is agreement from GMS musculoskeletal group (Tracy Lester) that it is a predominantly craniosynostosis phenotype. It is green on the Craniosynostosis panel.
28 Nov 2019	Skeletal dysplasia v1.249	EFNB1	Eleanor Williams Gene: efnb1 has been removed from the panel.
06 Sep 2019	Skeletal dysplasia v1.193	EFNB1	Rhoda Akilapa commented on gene: EFNB1
06 May 2019	Skeletal dysplasia v1.153	EFNB1	Eleanor Williams Added phenotypes Craniofrontonasal dysplasia 304110 for gene: EFNB1
06 Mar 2019	Skeletal dysplasia v1.147	EFNB1	Tracy Lester reviewed gene: EFNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Craniofrontonasal dysplasia 304110; Mode of inheritance: X-LINKED: hemizygous mutation in males is generally not pathogenic, monoallelic mutations in females may cause disease, as do mosaic mutations in males ; Current diagnostic: yes
06 Mar 2019	Skeletal dysplasia v1.146	EFNB1	Eleanor Williams reviewed gene: EFNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Mar 2019	Skeletal dysplasia v1.145	EFNB1	Eleanor Williams Source NHS GMS was added to EFNB1. Rating Changed from Green List (high evidence) to Green List (high evidence)