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Severe Paediatric Disorders v0.17 COL4A3 Louise Daugherty Mode of inheritance for gene COL4A3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 COL4A3BP Louise Daugherty Mode of inheritance for gene COL4A3BP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.12 COL4A3 Louise Daugherty reviewed gene: COL4A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COL4A3BP Louise Daugherty edited their review of gene: COL4A3BP: 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: CERT1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Mental retardation, autosomal dominant 34, 616351 (3); Mode of inheritance: Autosomal dominant; Changed rating: AMBER
Severe Paediatric Disorders v0.11 COL4A3 Louise Daugherty Publications for gene COL4A3 were updated from to 30847515
Severe Paediatric Disorders v0.11 COL4A3BP Louise Daugherty Publications for gene COL4A3BP were updated from to 30847515
Severe Paediatric Disorders v0.10 COL4A3 Louise Daugherty Added phenotypes Alport syndrome 3, autosomal dominant, 104200; Hematuria, benign familial, 141200; Alport syndrome 2, autosomal recessive, 203780 for gene: COL4A3
Severe Paediatric Disorders v0.10 COL4A3BP Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 34, 616351 for gene: COL4A3BP
Severe Paediatric Disorders v0.9 COL4A3 Louise Daugherty Added phenotypes Alport syndrome 3, autosomal dominant, 104200; Hematuria, benign familial, 141200; Alport syndrome 2, autosomal recessive, 203780 for gene: COL4A3
Severe Paediatric Disorders v0.9 COL4A3BP Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 34, 616351 for gene: COL4A3BP
Severe Paediatric Disorders v0.9 COL4A3 Louise Daugherty Added phenotypes Alport syndrome 3, autosomal dominant, 104200; Hematuria, benign familial, 141200; Alport syndrome 2, autosomal recessive, 203780 for gene: COL4A3
Severe Paediatric Disorders v0.9 COL4A3BP Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 34, 616351 for gene: COL4A3BP
Severe Paediatric Disorders v0.8 COL4A3 Louise Daugherty Added phenotypes Hematuria, benign familial, 141200; Alport syndrome 2, autosomal recessive, 203780; Alport syndrome 3, autosomal dominant, 104200 for gene: COL4A3
Severe Paediatric Disorders v0.8 COL4A3BP Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 34, 616351 for gene: COL4A3BP
Severe Paediatric Disorders v0.7 COL4A3BP Louise Daugherty commented on gene: COL4A3BP
Severe Paediatric Disorders v0.6 COL4A3BP Louise Daugherty Tag new-gene-name tag was added to gene: COL4A3BP.
Severe Paediatric Disorders v0.7 COL4A3 Louise Daugherty Source Next Generation Children Project was added to COL4A3.
Severe Paediatric Disorders v0.7 COL4A3BP Louise Daugherty Source Next Generation Children Project was added to COL4A3BP.
Severe Paediatric Disorders v0.5 COL4A3 Louise Daugherty Source Expert Review Green was added to COL4A3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 COL4A3BP Louise Daugherty Source Expert Review Green was added to COL4A3BP.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 COL4A3 Louise Daugherty gene: COL4A3 was added
gene: COL4A3 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: COL4A3 was set to
Severe Paediatric Disorders v0.4 COL4A3BP Louise Daugherty gene: COL4A3BP was added
gene: COL4A3BP was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: COL4A3BP was set to