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Severe Paediatric Disorders v1.8 | CARS | Eleanor Williams Added comment: Comment on phenotypes: Added disease term which has now been added to OMIM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v1.8 | CARS | Eleanor Williams Phenotypes for gene: CARS were changed from Microcephaly Developmental Delay and Brittle Hair and Nail to Microcephaly Developmental Delay and Brittle Hair and Nail; Microcephaly, developmental delay, and brittle hair syndrome MIM#618891 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.17 | CARS2 | Louise Daugherty Mode of inheritance for gene CARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.17 | CARS | Louise Daugherty Mode of inheritance for gene CARS was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | CARS2 | Louise Daugherty reviewed gene: CARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v0.11 | CARS2 | Louise Daugherty Publications for gene CARS2 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | CARS | Louise Daugherty Publications for gene CARS were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | CARS2 | Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 27, 616672 for gene: CARS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | CARS | Louise Daugherty Added phenotypes Microcephaly Developmental Delay and Brittle Hair and Nail for gene: CARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | CARS2 | Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 27, 616672 for gene: CARS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | CARS | Louise Daugherty Added phenotypes Microcephaly Developmental Delay and Brittle Hair and Nail for gene: CARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | CARS2 | Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 27, 616672 for gene: CARS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | CARS | Louise Daugherty Added phenotypes Microcephaly Developmental Delay and Brittle Hair and Nail for gene: CARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | CARS2 | Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 27, 616672 for gene: CARS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | CARS | Louise Daugherty Added phenotypes Microcephaly Developmental Delay and Brittle Hair and Nail for gene: CARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | CARS | Louise Daugherty commented on gene: CARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.6 | CARS | Louise Daugherty Tag new-gene-name tag was added to gene: CARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | CARS2 | Louise Daugherty Source Next Generation Children Project was added to CARS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | CARS | Louise Daugherty Source Next Generation Children Project was added to CARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | CARS2 |
Louise Daugherty Source Expert Review Green was added to CARS2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.5 | CARS |
Louise Daugherty Source Expert Review Green was added to CARS. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | CARS2 |
Louise Daugherty gene: CARS2 was added gene: CARS2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: CARS2 was set to |
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Severe Paediatric Disorders v0.4 | CARS |
Louise Daugherty gene: CARS was added gene: CARS was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: CARS was set to |