Activity

Filter

Panel

Version

Gene or Genomic Entity Name

Date from

Date to

Cancel

Date	Panel	Item	Activity
Filter activities 7 actions
31 Jan 2020	Ichthyosis v0.25	CASP14	Zornitza Stark Marked gene: CASP14 as ready
31 Jan 2020	Ichthyosis v0.25	CASP14	Zornitza Stark Gene: casp14 has been classified as Amber List (Moderate Evidence).
31 Jan 2020	Ichthyosis v0.25	CASP14	Zornitza Stark Classified gene: CASP14 as Amber List (moderate evidence)
31 Jan 2020	Ichthyosis v0.25	CASP14	Zornitza Stark Gene: casp14 has been classified as Amber List (Moderate Evidence).
31 Jan 2020	Ichthyosis v0.25	CASP14	Zornitza Stark Classified gene: CASP14 as Amber List (moderate evidence)
31 Jan 2020	Ichthyosis v0.25	CASP14	Zornitza Stark Gene: casp14 has been classified as Amber List (Moderate Evidence).
31 Jan 2020	Ichthyosis v0.9	CASP14	Bryony Thompson gene: CASP14 was added gene: CASP14 was added to Ichthyosis. Sources: Expert list Mode of inheritance for gene: CASP14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CASP14 were set to 27494380; 23014340; 17515931 Phenotypes for gene: CASP14 were set to Ichthyosis, congenital, autosomal recessive 12 MIM#617320 Review for gene: CASP14 was set to AMBER Added comment: The same 2bp deletion was identified in 3 patients with a mild form of generalised ichthyosis from 2 Algerian families. Casp14-/- mouse models had prominent dermatological features. Sources: Expert list