Activity

Filter

Panel

Version

Gene or Genomic Entity Name

Date from

Date to

Cancel

Date	Panel	Item	Activity
Filter activities 5 actions
22 Jul 2020	Radial Ray Abnormalities v0.26	SMC1A	Zornitza Stark Marked gene: SMC1A as ready
22 Jul 2020	Radial Ray Abnormalities v0.26	SMC1A	Zornitza Stark Gene: smc1a has been classified as Green List (High Evidence).
22 Jul 2020	Radial Ray Abnormalities v0.26	SMC1A	Zornitza Stark Classified gene: SMC1A as Green List (high evidence)
22 Jul 2020	Radial Ray Abnormalities v0.26	SMC1A	Zornitza Stark Gene: smc1a has been classified as Green List (High Evidence).
22 Jul 2020	Radial Ray Abnormalities v0.25	SMC1A	Zornitza Stark gene: SMC1A was added gene: SMC1A was added to Radial Ray Abnormalities. Sources: Expert list Mode of inheritance for gene: SMC1A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: SMC1A were set to Cornelia de Lange syndrome 2, MIM# 300590 Review for gene: SMC1A was set to GREEN Added comment: Well established gene-disease association, radial ray abnormalities are part of the phenotype. XLD. Sources: Expert list