Activity

Filter

Cancel
Date Panel Item Activity
14 actions
Mendeliome v0.13310 CHST14 Ain Roesley Marked gene: CHST14 as ready
Mendeliome v0.13310 CHST14 Ain Roesley Gene: chst14 has been classified as Green List (High Evidence).
Mendeliome v0.13310 CHST14 Ain Roesley Phenotypes for gene: CHST14 were changed from to Ehlers-Danlos syndrome, musculocontractural type 1 MIM# 601776
Mendeliome v0.13309 CHST14 Ain Roesley Publications for gene: CHST14 were set to
Mendeliome v0.13309 CHST14 Ain Roesley Mode of inheritance for gene: CHST14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13308 CHST14 Ain Roesley reviewed gene: CHST14: Rating: GREEN; Mode of pathogenicity: None; Publications: 28306229, 25703627, 26373698; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 1 MIM# 601776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.7634 ST14 Zornitza Stark Marked gene: ST14 as ready
Mendeliome v0.7634 ST14 Zornitza Stark Gene: st14 has been classified as Green List (High Evidence).
Mendeliome v0.7634 ST14 Zornitza Stark Phenotypes for gene: ST14 were changed from to Ichthyosis, congenital, autosomal recessive 11, MIM# MIM#602400
Mendeliome v0.7633 ST14 Zornitza Stark Publications for gene: ST14 were set to
Mendeliome v0.7632 ST14 Zornitza Stark Mode of inheritance for gene: ST14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7631 ST14 Zornitza Stark reviewed gene: ST14: Rating: GREEN; Mode of pathogenicity: None; Publications: 18843291, 29611532, 17273967; Phenotypes: Ichthyosis, congenital, autosomal recessive 11 MIM#602400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.0 ST14 Zornitza Stark gene: ST14 was added
gene: ST14 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ST14 was set to Unknown
Mendeliome v0.0 CHST14 Zornitza Stark gene: CHST14 was added
gene: CHST14 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHST14 was set to Unknown