Activity

Filter

Cancel
Date Panel Item Activity
30 actions
Severe Paediatric Disorders v0.17 HADHB Louise Daugherty Mode of inheritance for gene HADHB was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HADHA Louise Daugherty Mode of inheritance for gene HADHA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 HADH Louise Daugherty Mode of inheritance for gene HADH was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 HADHB Louise Daugherty reviewed gene: HADHB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HADHA Louise Daugherty reviewed gene: HADHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HADH Louise Daugherty reviewed gene: HADH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 HADHB Louise Daugherty Publications for gene HADHB were updated from to 30847515
Severe Paediatric Disorders v0.11 HADHA Louise Daugherty Publications for gene HADHA were updated from to 30847515
Severe Paediatric Disorders v0.11 HADH Louise Daugherty Publications for gene HADH were updated from to 30847515
Severe Paediatric Disorders v0.10 HADHB Louise Daugherty Added phenotypes Trifunctional protein deficiency, 609015 for gene: HADHB
Severe Paediatric Disorders v0.10 HADHA Louise Daugherty Added phenotypes Fatty liver, acute, of pregnancy, 609016; LCHAD deficiency, 609016; Trifunctional protein deficiency, 609015; HELLP syndrome, maternal, of pregnancy, 609016 for gene: HADHA
Severe Paediatric Disorders v0.10 HADH Louise Daugherty Added phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530; Hyperinsulinemic hypoglycemia, familial, 4, 609975 for gene: HADH
Severe Paediatric Disorders v0.9 HADHB Louise Daugherty Added phenotypes Trifunctional protein deficiency, 609015 for gene: HADHB
Severe Paediatric Disorders v0.9 HADHA Louise Daugherty Added phenotypes Fatty liver, acute, of pregnancy, 609016; LCHAD deficiency, 609016; Trifunctional protein deficiency, 609015; HELLP syndrome, maternal, of pregnancy, 609016 for gene: HADHA
Severe Paediatric Disorders v0.9 HADH Louise Daugherty Added phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530; Hyperinsulinemic hypoglycemia, familial, 4, 609975 for gene: HADH
Severe Paediatric Disorders v0.9 HADHB Louise Daugherty Added phenotypes Trifunctional protein deficiency, 609015 for gene: HADHB
Severe Paediatric Disorders v0.9 HADHA Louise Daugherty Added phenotypes Fatty liver, acute, of pregnancy, 609016; LCHAD deficiency, 609016; Trifunctional protein deficiency, 609015; HELLP syndrome, maternal, of pregnancy, 609016 for gene: HADHA
Severe Paediatric Disorders v0.9 HADH Louise Daugherty Added phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530; Hyperinsulinemic hypoglycemia, familial, 4, 609975 for gene: HADH
Severe Paediatric Disorders v0.8 HADHB Louise Daugherty Added phenotypes Trifunctional protein deficiency, 609015 for gene: HADHB
Severe Paediatric Disorders v0.8 HADHA Louise Daugherty Added phenotypes HELLP syndrome, maternal, of pregnancy, 609016; LCHAD deficiency, 609016; Fatty liver, acute, of pregnancy, 609016; Trifunctional protein deficiency, 609015 for gene: HADHA
Severe Paediatric Disorders v0.8 HADH Louise Daugherty Added phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530; Hyperinsulinemic hypoglycemia, familial, 4, 609975 for gene: HADH
Severe Paediatric Disorders v0.7 HADHB Louise Daugherty Source Next Generation Children Project was added to HADHB.
Severe Paediatric Disorders v0.7 HADHA Louise Daugherty Source Next Generation Children Project was added to HADHA.
Severe Paediatric Disorders v0.7 HADH Louise Daugherty Source Next Generation Children Project was added to HADH.
Severe Paediatric Disorders v0.5 HADHB Louise Daugherty Source Expert Review Green was added to HADHB.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 HADHA Louise Daugherty Source Expert Review Green was added to HADHA.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 HADH Louise Daugherty Source Expert Review Green was added to HADH.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 HADHB Louise Daugherty gene: HADHB was added
gene: HADHB was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: HADHB was set to
Severe Paediatric Disorders v0.4 HADHA Louise Daugherty gene: HADHA was added
gene: HADHA was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: HADHA was set to
Severe Paediatric Disorders v0.4 HADH Louise Daugherty gene: HADH was added
gene: HADH was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: HADH was set to