Activity

Filter

Panel

Version

Gene or Genomic Entity Name

Date from

Date to

Cancel

Date	Panel	Item	Activity
Filter activities 5 actions
15 Apr 2020	Cataract v0.122	POMT2	Bryony Thompson Mode of inheritance for gene: POMT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
15 Apr 2020	Cataract v0.121	POMT2	Bryony Thompson Marked gene: POMT2 as ready
15 Apr 2020	Cataract v0.121	POMT2	Bryony Thompson Gene: pomt2 has been classified as Green List (High Evidence).
15 Apr 2020	Cataract v0.121	POMT2	Bryony Thompson reviewed gene: POMT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15894594, 17878207; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 MIM#613150, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 MIM#613156, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 MIM#613158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
17 Nov 2019	Cataract v0.0	POMT2	Zornitza Stark gene: POMT2 was added gene: POMT2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POMT2 was set to Unknown