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Severe Paediatric Disorders v0.17 CBL Louise Daugherty Mode of inheritance for gene CBL was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.12 GIF Louise Daugherty edited their review of gene: GIF: 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: CBLIF; Recommended initial gene rating: Green List (high evidence); Phenotypes: Intrinsic factor deficiency, 261000 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 CBL Louise Daugherty reviewed gene: CBL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 CBL Louise Daugherty Publications for gene CBL were updated from to 30847515
Severe Paediatric Disorders v0.10 MTRR Louise Daugherty Added phenotypes Homocystinuria-megaloblastic anemia, cbl E type, 236270 for gene: MTRR
Severe Paediatric Disorders v0.10 MTR Louise Daugherty Added phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 for gene: MTR
Severe Paediatric Disorders v0.10 MMADHC Louise Daugherty Added phenotypes Homocystinuria, cblD type, variant 1, 277410; Methylmalonic aciduria, cblD type, variant 2, 277410; Methylmalonic aciduria and homocystinuria, cblD type, 277410 for gene: MMADHC
Severe Paediatric Disorders v0.10 MMACHC Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400 for gene: MMACHC
Severe Paediatric Disorders v0.10 MMAB Louise Daugherty Added phenotypes Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 for gene: MMAB
Severe Paediatric Disorders v0.10 LMBRD1 Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria, cblF type, 277380 for gene: LMBRD1
Severe Paediatric Disorders v0.10 HCFC1 Louise Daugherty Added phenotypes Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 for gene: HCFC1
Severe Paediatric Disorders v0.10 CBL Louise Daugherty Added phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 for gene: CBL
Severe Paediatric Disorders v0.10 ABCD4 Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria, cblJ type, 614857 for gene: ABCD4
Severe Paediatric Disorders v0.9 MTRR Louise Daugherty Added phenotypes Homocystinuria-megaloblastic anemia, cbl E type, 236270 for gene: MTRR
Severe Paediatric Disorders v0.9 MTR Louise Daugherty Added phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 for gene: MTR
Severe Paediatric Disorders v0.9 MMADHC Louise Daugherty Added phenotypes Homocystinuria, cblD type, variant 1, 277410; Methylmalonic aciduria, cblD type, variant 2, 277410; Methylmalonic aciduria and homocystinuria, cblD type, 277410 for gene: MMADHC
Severe Paediatric Disorders v0.9 MMACHC Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400 for gene: MMACHC
Severe Paediatric Disorders v0.9 MMAB Louise Daugherty Added phenotypes Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 for gene: MMAB
Severe Paediatric Disorders v0.9 LMBRD1 Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria, cblF type, 277380 for gene: LMBRD1
Severe Paediatric Disorders v0.9 HCFC1 Louise Daugherty Added phenotypes Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 for gene: HCFC1
Severe Paediatric Disorders v0.9 CBL Louise Daugherty Added phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 for gene: CBL
Severe Paediatric Disorders v0.9 ABCD4 Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria, cblJ type, 614857 for gene: ABCD4
Severe Paediatric Disorders v0.9 MTRR Louise Daugherty Added phenotypes Homocystinuria-megaloblastic anemia, cbl E type, 236270 for gene: MTRR
Severe Paediatric Disorders v0.9 MTR Louise Daugherty Added phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 for gene: MTR
Severe Paediatric Disorders v0.9 MMADHC Louise Daugherty Added phenotypes Homocystinuria, cblD type, variant 1, 277410; Methylmalonic aciduria, cblD type, variant 2, 277410; Methylmalonic aciduria and homocystinuria, cblD type, 277410 for gene: MMADHC
Severe Paediatric Disorders v0.9 MMACHC Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400 for gene: MMACHC
Severe Paediatric Disorders v0.9 MMAB Louise Daugherty Added phenotypes Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 for gene: MMAB
Severe Paediatric Disorders v0.9 LMBRD1 Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria, cblF type, 277380 for gene: LMBRD1
Severe Paediatric Disorders v0.9 HCFC1 Louise Daugherty Added phenotypes Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 for gene: HCFC1
Severe Paediatric Disorders v0.9 CBL Louise Daugherty Added phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 for gene: CBL
Severe Paediatric Disorders v0.9 ABCD4 Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria, cblJ type, 614857 for gene: ABCD4
Severe Paediatric Disorders v0.8 MTRR Louise Daugherty Added phenotypes Homocystinuria-megaloblastic anemia, cbl E type, 236270 for gene: MTRR
Severe Paediatric Disorders v0.8 MTR Louise Daugherty Added phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 for gene: MTR
Severe Paediatric Disorders v0.8 MMADHC Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria, cblD type, 277410; Homocystinuria, cblD type, variant 1, 277410; Methylmalonic aciduria, cblD type, variant 2, 277410 for gene: MMADHC
Severe Paediatric Disorders v0.8 MMACHC Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400 for gene: MMACHC
Severe Paediatric Disorders v0.8 MMAB Louise Daugherty Added phenotypes Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 for gene: MMAB
Severe Paediatric Disorders v0.8 LMBRD1 Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria, cblF type, 277380 for gene: LMBRD1
Severe Paediatric Disorders v0.8 HCFC1 Louise Daugherty Added phenotypes Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 for gene: HCFC1
Severe Paediatric Disorders v0.8 CBL Louise Daugherty Added phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 for gene: CBL
Severe Paediatric Disorders v0.8 ABCD4 Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria, cblJ type, 614857 for gene: ABCD4
Severe Paediatric Disorders v0.7 CBL Louise Daugherty Source Next Generation Children Project was added to CBL.
Severe Paediatric Disorders v0.5 CBL Louise Daugherty Source Expert Review Green was added to CBL.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 CBL Louise Daugherty gene: CBL was added
gene: CBL was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CBL was set to