Activity

Filter

Panel

Version

Gene or Genomic Entity Name

Date from

Date to

Cancel

Date	Panel	Item	Activity
Filter activities 5 actions
30 Dec 2022	BabyScreen+ newborn screening v0.1790	S1PR2	Zornitza Stark Marked gene: S1PR2 as ready
30 Dec 2022	BabyScreen+ newborn screening v0.1790	S1PR2	Zornitza Stark Gene: s1pr2 has been classified as Green List (High Evidence).
30 Dec 2022	BabyScreen+ newborn screening v0.1790	S1PR2	Zornitza Stark Classified gene: S1PR2 as Green List (high evidence)
30 Dec 2022	BabyScreen+ newborn screening v0.1790	S1PR2	Zornitza Stark Gene: s1pr2 has been classified as Green List (High Evidence).
30 Dec 2022	BabyScreen+ newborn screening v0.1789	S1PR2	Zornitza Stark gene: S1PR2 was added gene: S1PR2 was added to gNBS. Sources: ClinGen deafness tags were added to gene: S1PR2. Mode of inheritance for gene: S1PR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: S1PR2 were set to Deafness, autosomal recessive 68, MIM# 610419 Review for gene: S1PR2 was set to GREEN Added comment: Assessed as 'strong actionability' in paediatric patients by ClinGen, onset of deafness is generally pre-lingual, therefore include. Sources: ClinGen