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Severe Paediatric Disorders v0.17 ARSE Louise Daugherty Mode of inheritance for gene ARSE was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.12 ARSE Louise Daugherty edited their review of gene: ARSE: 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: ARSL; Recommended initial gene rating: Green List (high evidence); Phenotypes: Chondrodysplasia punctata, X-linked recessive, 302950 (3); Mode of inheritance: X-linked recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.11 ARSE Louise Daugherty Publications for gene ARSE were updated from to 30847515
Severe Paediatric Disorders v0.10 MYH14 Louise Daugherty Added phenotypes ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369; Deafness, autosomal dominant 4A, 600652 for gene: MYH14
Severe Paediatric Disorders v0.10 FLNB Louise Daugherty Added phenotypes Spondylocarpotarsal synostosis syndrome, 272460; Atelosteogenesis, type III, 108721; Larsen syndrome, 150250; Boomerang dysplasia, 112310; Atelosteogenesis, type I, 108720 for gene: FLNB
Severe Paediatric Disorders v0.10 DPH1 Louise Daugherty Added phenotypes Developmental delay with short stature, dysmorphic facial features, and sparse hair, 616901 for gene: DPH1
Severe Paediatric Disorders v0.10 ARSE Louise Daugherty Added phenotypes Chondrodysplasia punctata, X-linked recessive, 302950 for gene: ARSE
Severe Paediatric Disorders v0.9 MYH14 Louise Daugherty Added phenotypes ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369; Deafness, autosomal dominant 4A, 600652 for gene: MYH14
Severe Paediatric Disorders v0.9 FLNB Louise Daugherty Added phenotypes Spondylocarpotarsal synostosis syndrome, 272460; Atelosteogenesis, type III, 108721; Larsen syndrome, 150250; Boomerang dysplasia, 112310; Atelosteogenesis, type I, 108720 for gene: FLNB
Severe Paediatric Disorders v0.9 DPH1 Louise Daugherty Added phenotypes Developmental delay with short stature, dysmorphic facial features, and sparse hair, 616901 for gene: DPH1
Severe Paediatric Disorders v0.9 ARSE Louise Daugherty Added phenotypes Chondrodysplasia punctata, X-linked recessive, 302950 for gene: ARSE
Severe Paediatric Disorders v0.9 MYH14 Louise Daugherty Added phenotypes ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369; Deafness, autosomal dominant 4A, 600652 for gene: MYH14
Severe Paediatric Disorders v0.9 FLNB Louise Daugherty Added phenotypes Spondylocarpotarsal synostosis syndrome, 272460; Atelosteogenesis, type III, 108721; Larsen syndrome, 150250; Boomerang dysplasia, 112310; Atelosteogenesis, type I, 108720 for gene: FLNB
Severe Paediatric Disorders v0.9 DPH1 Louise Daugherty Added phenotypes Developmental delay with short stature, dysmorphic facial features, and sparse hair, 616901 for gene: DPH1
Severe Paediatric Disorders v0.9 ARSE Louise Daugherty Added phenotypes Chondrodysplasia punctata, X-linked recessive, 302950 for gene: ARSE
Severe Paediatric Disorders v0.8 MYH14 Louise Daugherty Added phenotypes ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369; Deafness, autosomal dominant 4A, 600652 for gene: MYH14
Severe Paediatric Disorders v0.8 FLNB Louise Daugherty Added phenotypes Boomerang dysplasia, 112310; Spondylocarpotarsal synostosis syndrome, 272460; Larsen syndrome, 150250; Atelosteogenesis, type I, 108720; Atelosteogenesis, type III, 108721 for gene: FLNB
Severe Paediatric Disorders v0.8 DPH1 Louise Daugherty Added phenotypes Developmental delay with short stature, dysmorphic facial features, and sparse hair, 616901 for gene: DPH1
Severe Paediatric Disorders v0.8 ARSE Louise Daugherty Added phenotypes Chondrodysplasia punctata, X-linked recessive, 302950 for gene: ARSE
Severe Paediatric Disorders v0.7 ARSE Louise Daugherty commented on gene: ARSE
Severe Paediatric Disorders v0.6 ARSE Louise Daugherty Tag new-gene-name tag was added to gene: ARSE.
Severe Paediatric Disorders v0.7 ARSE Louise Daugherty Source Next Generation Children Project was added to ARSE.
Severe Paediatric Disorders v0.5 ARSE Louise Daugherty Source Expert Review Green was added to ARSE.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 ARSE Louise Daugherty gene: ARSE was added
gene: ARSE was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ARSE was set to