Activity

Filter

Cancel
Date Panel Item Activity
27 actions
Severe Paediatric Disorders v1.23 AARS Arina Puzriakova Phenotypes for gene: AARS were changed from Charcot-Marie-Tooth disease, axonal, type 2N, 613287; Epileptic encephalopathy, early infantile, 29, 616339 to Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287; Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212; Developmental and epileptic encephalopathy 29, OMIM:616339; Developmental and epileptic encephalopathy, 29, MONDO:0014593
Severe Paediatric Disorders v0.17 AARS2 Louise Daugherty Mode of inheritance for gene AARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 AARS Louise Daugherty Mode of inheritance for gene AARS was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 AARS2 Louise Daugherty reviewed gene: AARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AARS Louise Daugherty edited their review of gene: AARS: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: AARS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2N, 613287 (3) | Epileptic encephalopathy, early infantile, 29, 616339 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.11 AARS2 Louise Daugherty Publications for gene AARS2 were updated from to 30847515
Severe Paediatric Disorders v0.11 AARS Louise Daugherty Publications for gene AARS were updated from to 30847515
Severe Paediatric Disorders v0.10 FGD1 Louise Daugherty Added phenotypes Mental retardation, X-linked syndromic 16, 305400; Aarskog-Scott syndrome, 305400 for gene: FGD1
Severe Paediatric Disorders v0.10 AARS2 Louise Daugherty Added phenotypes Leukoencephalopathy, progressive, with ovarian failure, 615889; Combined oxidative phosphorylation deficiency 8, 614096 for gene: AARS2
Severe Paediatric Disorders v0.10 AARS Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2N, 613287; Epileptic encephalopathy, early infantile, 29, 616339 for gene: AARS
Severe Paediatric Disorders v0.9 FGD1 Louise Daugherty Added phenotypes Mental retardation, X-linked syndromic 16, 305400; Aarskog-Scott syndrome, 305400 for gene: FGD1
Severe Paediatric Disorders v0.9 AARS2 Louise Daugherty Added phenotypes Leukoencephalopathy, progressive, with ovarian failure, 615889; Combined oxidative phosphorylation deficiency 8, 614096 for gene: AARS2
Severe Paediatric Disorders v0.9 AARS Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2N, 613287; Epileptic encephalopathy, early infantile, 29, 616339 for gene: AARS
Severe Paediatric Disorders v0.9 FGD1 Louise Daugherty Added phenotypes Mental retardation, X-linked syndromic 16, 305400; Aarskog-Scott syndrome, 305400 for gene: FGD1
Severe Paediatric Disorders v0.9 AARS2 Louise Daugherty Added phenotypes Leukoencephalopathy, progressive, with ovarian failure, 615889; Combined oxidative phosphorylation deficiency 8, 614096 for gene: AARS2
Severe Paediatric Disorders v0.9 AARS Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2N, 613287; Epileptic encephalopathy, early infantile, 29, 616339 for gene: AARS
Severe Paediatric Disorders v0.8 FGD1 Louise Daugherty Added phenotypes Mental retardation, X-linked syndromic 16, 305400; Aarskog-Scott syndrome, 305400 for gene: FGD1
Severe Paediatric Disorders v0.8 AARS2 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 8, 614096; Leukoencephalopathy, progressive, with ovarian failure, 615889 for gene: AARS2
Severe Paediatric Disorders v0.8 AARS Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2N, 613287; Epileptic encephalopathy, early infantile, 29, 616339 for gene: AARS
Severe Paediatric Disorders v0.6 AARS Louise Daugherty commented on gene: AARS
Severe Paediatric Disorders v0.6 AARS Louise Daugherty Tag new-gene-name tag was added to gene: AARS.
Severe Paediatric Disorders v0.7 AARS2 Louise Daugherty Source Next Generation Children Project was added to AARS2.
Severe Paediatric Disorders v0.7 AARS Louise Daugherty Source Next Generation Children Project was added to AARS.
Severe Paediatric Disorders v0.5 AARS2 Louise Daugherty Source Expert Review Green was added to AARS2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 AARS Louise Daugherty Source Expert Review Green was added to AARS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 AARS2 Louise Daugherty gene: AARS2 was added
gene: AARS2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: AARS2 was set to
Severe Paediatric Disorders v0.4 AARS Louise Daugherty gene: AARS was added
gene: AARS was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: AARS was set to