Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Congenital Disorders of Glycosylation v0.157 ALG11 Zornitza Stark Marked gene: ALG11 as ready
Congenital Disorders of Glycosylation v0.157 ALG11 Zornitza Stark Gene: alg11 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.157 ALG11 Zornitza Stark Phenotypes for gene: ALG11 were changed from to Congenital disorder of glycosylation, type Ip, MIM# 613661
Congenital Disorders of Glycosylation v0.156 ALG11 Zornitza Stark Publications for gene: ALG11 were set to
Congenital Disorders of Glycosylation v0.155 ALG11 Zornitza Stark Mode of inheritance for gene: ALG11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.151 ALG11 Sarah Donoghue reviewed gene: ALG11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30676690; Phenotypes: Developmental disability, Epilepsy, Dysmorphic features, Microcephaly, Hypotonia, Hypertonia, Hyperreflexia, Sensorineural deafness, Eye/Visual Problems, Feeding problems; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital Disorders of Glycosylation v0.0 ALG11 Zornitza Stark gene: ALG11 was added
gene: ALG11 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALG11 was set to Unknown