Activity

Filter

Panel

Version

Gene or Genomic Entity Name

Date from

Date to

Cancel

Date	Panel	Item	Activity
Filter activities 5 actions
06 Mar 2020	Hereditary Spastic Paraplegia - paediatric v0.6	AAAS	Bryony Thompson Marked gene: AAAS as ready
06 Mar 2020	Hereditary Spastic Paraplegia - paediatric v0.6	AAAS	Bryony Thompson Gene: aaas has been classified as Amber List (Moderate Evidence).
06 Mar 2020	Hereditary Spastic Paraplegia - paediatric v0.6	AAAS	Bryony Thompson Classified gene: AAAS as Amber List (moderate evidence)
06 Mar 2020	Hereditary Spastic Paraplegia - paediatric v0.6	AAAS	Bryony Thompson Gene: aaas has been classified as Amber List (Moderate Evidence).
06 Mar 2020	Hereditary Spastic Paraplegia - paediatric v0.5	AAAS	Bryony Thompson gene: AAAS was added gene: AAAS was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AAAS were set to 30381913 Phenotypes for gene: AAAS were set to Achalasia-addisonianism-alacrimia syndrome MIM#231550; complicated hereditary spastic paraplegia Review for gene: AAAS was set to AMBER Added comment: Two families reported with complicated HSP. Sources: Expert list