Activity

Filter

Panel

Version

Gene or Genomic Entity Name

Date from

Date to

Cancel

Date	Panel	Item	Activity
Filter activities 5 actions
30 Jun 2020	Ehlers Danlos syndromes v0.4	AEBP1	Bryony Thompson Marked gene: AEBP1 as ready
30 Jun 2020	Ehlers Danlos syndromes v0.4	AEBP1	Bryony Thompson Gene: aebp1 has been classified as Green List (High Evidence).
30 Jun 2020	Ehlers Danlos syndromes v0.4	AEBP1	Bryony Thompson Classified gene: AEBP1 as Green List (high evidence)
30 Jun 2020	Ehlers Danlos syndromes v0.4	AEBP1	Bryony Thompson Gene: aebp1 has been classified as Green List (High Evidence).
30 Jun 2020	Ehlers Danlos syndromes v0.3	AEBP1	Bryony Thompson gene: AEBP1 was added gene: AEBP1 was added to Ehlers Danlos syndromes. Sources: Literature Mode of inheritance for gene: AEBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AEBP1 were set to 30759870 Phenotypes for gene: AEBP1 were set to Ehlers-Danlos syndrome, classic-like, 2 MIM#618000; Classical-like EDS Review for gene: AEBP1 was set to GREEN Added comment: 7 cases from 5 unrelated families with homozygous or compound heterozygous variants with classical-like EDS phenotype. Sources: Literature