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Severe Paediatric Disorders v0.18 RS1 Louise Daugherty Mode of inheritance for gene: RS1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.17 FRRS1L Louise Daugherty Mode of inheritance for gene FRRS1L was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 RS1 Louise Daugherty reviewed gene: RS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KARS Louise Daugherty edited their review of gene: KARS: 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: KARS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 (3) | Deafness, autosomal recessive 89, 613916 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 IARS Louise Daugherty edited their review of gene: IARS: 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: IARS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 GARS Louise Daugherty edited their review of gene: GARS: 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: GARS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Charcot-Marie-Tooth disease, type 2D, 601472 (3) | Neuropathy, distal hereditary motor, type VA, 600794 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant; Changed rating: AMBER
Severe Paediatric Disorders v0.12 FRRS1L Louise Daugherty reviewed gene: FRRS1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EPRS Louise Daugherty edited their review of gene: EPRS: 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: EPRS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Leukodystrophy, hypomyelinating, 15, 617951 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 DARS Louise Daugherty edited their review of gene: DARS: 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: DARS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 CARS Louise Daugherty edited their review of gene: CARS: 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: CARS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Microcephaly Developmental Delay and Brittle Hair and Nail; Mode of inheritance: ; Changed rating: AMBER
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 RS1 Louise Daugherty Publications for gene RS1 were updated from to 30847515
Severe Paediatric Disorders v0.11 FRRS1L Louise Daugherty Publications for gene FRRS1L were updated from to 30847515
Severe Paediatric Disorders v0.10 RS1 Louise Daugherty Added phenotypes Retinoschisis, 312700 for gene: RS1
Severe Paediatric Disorders v0.10 FRRS1L Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 37, 616981 for gene: FRRS1L
Severe Paediatric Disorders v0.9 RS1 Louise Daugherty Added phenotypes Retinoschisis, 312700 for gene: RS1
Severe Paediatric Disorders v0.9 FRRS1L Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 37, 616981 for gene: FRRS1L
Severe Paediatric Disorders v0.9 RS1 Louise Daugherty Added phenotypes Retinoschisis, 312700 for gene: RS1
Severe Paediatric Disorders v0.9 FRRS1L Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 37, 616981 for gene: FRRS1L
Severe Paediatric Disorders v0.8 RS1 Louise Daugherty Added phenotypes Retinoschisis, 312700 for gene: RS1
Severe Paediatric Disorders v0.8 FRRS1L Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 37, 616981 for gene: FRRS1L
Severe Paediatric Disorders v0.7 RS1 Louise Daugherty Source Next Generation Children Project was added to RS1.
Severe Paediatric Disorders v0.7 FRRS1L Louise Daugherty Source Next Generation Children Project was added to FRRS1L.
Severe Paediatric Disorders v0.5 RS1 Louise Daugherty Source Expert Review Green was added to RS1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 FRRS1L Louise Daugherty Source Expert Review Green was added to FRRS1L.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 RS1 Louise Daugherty gene: RS1 was added
gene: RS1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: RS1 was set to
Severe Paediatric Disorders v0.4 FRRS1L Louise Daugherty gene: FRRS1L was added
gene: FRRS1L was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: FRRS1L was set to