Activity

Filter

Panel

Version

Gene or Genomic Entity Name

Date from

Date to

Cancel

Date	Panel	Item	Activity
Filter activities 4 actions
06 May 2019	Skeletal dysplasia v1.153	AMER1	Eleanor Williams Added phenotypes Osteopathia striata with cranial sclerosis 300373 for gene: AMER1
06 Mar 2019	Skeletal dysplasia v1.147	AMER1	Tracy Lester reviewed gene: AMER1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Osteopathia striata with cranial sclerosis 300373; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
06 Mar 2019	Skeletal dysplasia v1.146	AMER1	Eleanor Williams reviewed gene: AMER1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Mar 2019	Skeletal dysplasia v1.145	AMER1	Eleanor Williams Source NHS GMS was added to AMER1. Rating Changed from Green List (high evidence) to Green List (high evidence)