Activity

Filter

Cancel
Date Panel Item Activity
12 actions
Ectodermal Dysplasia v1.0 GRHL2 Gene migrated from ENSG00000083307 to ENSG00000083307 (gene set migration)
Ectodermal Dysplasia v0.65 GRHL2 Zornitza Stark Publications for gene: GRHL2 were set to 25152456
Ectodermal Dysplasia v0.64 GRHL2 Zornitza Stark Classified gene: GRHL2 as Green List (high evidence)
Ectodermal Dysplasia v0.64 GRHL2 Zornitza Stark Gene: grhl2 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.63 GRHL2 Ain Roesley changed review comment from: 2 more unrelated probands with ectodermal dysplasia/short stature syndrome. Originally described in PMID: 19415813; to: 2 more unrelated probands with ectodermal dysplasia/short stature syndrome. 1x originally described in PMID: 19415813
Ectodermal Dysplasia v0.63 GRHL2 Ain Roesley edited their review of gene: GRHL2: Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.63 GRHL2 Ain Roesley reviewed gene: GRHL2: Rating: ; Mode of pathogenicity: None; Publications: 27612988, 19415813; Phenotypes: Ectodermal dysplasia/short stature syndrome MIM#616029; Mode of inheritance: None; Current diagnostic: yes
Ectodermal Dysplasia v0.52 GRHL2 Bryony Thompson Marked gene: GRHL2 as ready
Ectodermal Dysplasia v0.52 GRHL2 Bryony Thompson Gene: grhl2 has been classified as Amber List (Moderate Evidence).
Ectodermal Dysplasia v0.52 GRHL2 Bryony Thompson Classified gene: GRHL2 as Amber List (moderate evidence)
Ectodermal Dysplasia v0.52 GRHL2 Bryony Thompson Gene: grhl2 has been classified as Amber List (Moderate Evidence).
Ectodermal Dysplasia v0.51 GRHL2 Bryony Thompson gene: GRHL2 was added
gene: GRHL2 was added to Ectodermal Dysplasia. Sources: NHS GMS
Mode of inheritance for gene: GRHL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRHL2 were set to 25152456
Phenotypes for gene: GRHL2 were set to Ectodermal dysplasia/short stature syndrome MIM#616029
Review for gene: GRHL2 was set to AMBER
Added comment: Two unrelated consanguineous families with homozygous missense variants and some supporting assays on keratinocytes from cases.
Sources: NHS GMS