Activity

Filter

Cancel
Date Panel Item Activity
43 actions
Severe Paediatric Disorders v0.12 STS Louise Daugherty reviewed gene: STS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 STS Louise Daugherty Publications for gene STS were updated from to 30847515
Severe Paediatric Disorders v0.10 STS Louise Daugherty Added phenotypes Ichthyosis, X-linked, 308100 for gene: STS
Severe Paediatric Disorders v0.10 SNORD118 Louise Daugherty Added phenotypes Leukoencephalopathy, brain calcifications, and cysts, 614561 for gene: SNORD118
Severe Paediatric Disorders v0.10 MLC1 Louise Daugherty Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts, 604004 for gene: MLC1
Severe Paediatric Disorders v0.10 LRP5 Louise Daugherty Added phenotypes van Buchem disease, type 2, 607636; Osteosclerosis, 144750; Osteoporosis-pseudoglioma syndrome, 259770; Osteopetrosis, autosomal dominant 1, 607634; Exudative vitreoretinopathy 4, 601813; Polycystic liver disease 4 with or without kidney cysts, 617875; Hyperostosis, endosteal, 144750 for gene: LRP5
Severe Paediatric Disorders v0.10 HNF1B Louise Daugherty Added phenotypes Diabetes mellitus, noninsulin-dependent, 125853; Renal cysts and diabetes syndrome, 137920 for gene: HNF1B
Severe Paediatric Disorders v0.10 HEPACAM Louise Daugherty Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926; Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 for gene: HEPACAM
Severe Paediatric Disorders v0.10 CTC1 Louise Daugherty Added phenotypes Cerebroretinal microangiopathy with calcifications and cysts, 612199 for gene: CTC1
Severe Paediatric Disorders v0.10 ALG8 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ih, 608104; Polycystic liver disease 3 with or without kidney cysts, 617874 for gene: ALG8
Severe Paediatric Disorders v0.10 AGRN Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 for gene: AGRN
Severe Paediatric Disorders v0.9 STS Louise Daugherty Added phenotypes Ichthyosis, X-linked, 308100 for gene: STS
Severe Paediatric Disorders v0.9 SNORD118 Louise Daugherty Added phenotypes Leukoencephalopathy, brain calcifications, and cysts, 614561 for gene: SNORD118
Severe Paediatric Disorders v0.9 MLC1 Louise Daugherty Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts, 604004 for gene: MLC1
Severe Paediatric Disorders v0.9 LRP5 Louise Daugherty Added phenotypes van Buchem disease, type 2, 607636; Osteosclerosis, 144750; Osteoporosis-pseudoglioma syndrome, 259770; Osteopetrosis, autosomal dominant 1, 607634; Exudative vitreoretinopathy 4, 601813; Polycystic liver disease 4 with or without kidney cysts, 617875; Hyperostosis, endosteal, 144750 for gene: LRP5
Severe Paediatric Disorders v0.9 HNF1B Louise Daugherty Added phenotypes Diabetes mellitus, noninsulin-dependent, 125853; Renal cysts and diabetes syndrome, 137920 for gene: HNF1B
Severe Paediatric Disorders v0.9 HEPACAM Louise Daugherty Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926; Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 for gene: HEPACAM
Severe Paediatric Disorders v0.9 CTC1 Louise Daugherty Added phenotypes Cerebroretinal microangiopathy with calcifications and cysts, 612199 for gene: CTC1
Severe Paediatric Disorders v0.9 ALG8 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ih, 608104; Polycystic liver disease 3 with or without kidney cysts, 617874 for gene: ALG8
Severe Paediatric Disorders v0.9 AGRN Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 for gene: AGRN
Severe Paediatric Disorders v0.9 STS Louise Daugherty Added phenotypes Ichthyosis, X-linked, 308100 for gene: STS
Severe Paediatric Disorders v0.9 SNORD118 Louise Daugherty Added phenotypes Leukoencephalopathy, brain calcifications, and cysts, 614561 for gene: SNORD118
Severe Paediatric Disorders v0.9 MLC1 Louise Daugherty Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts, 604004 for gene: MLC1
Severe Paediatric Disorders v0.9 LRP5 Louise Daugherty Added phenotypes van Buchem disease, type 2, 607636; Osteosclerosis, 144750; Osteoporosis-pseudoglioma syndrome, 259770; Osteopetrosis, autosomal dominant 1, 607634; Exudative vitreoretinopathy 4, 601813; Polycystic liver disease 4 with or without kidney cysts, 617875; Hyperostosis, endosteal, 144750 for gene: LRP5
Severe Paediatric Disorders v0.9 HNF1B Louise Daugherty Added phenotypes Diabetes mellitus, noninsulin-dependent, 125853; Renal cysts and diabetes syndrome, 137920 for gene: HNF1B
Severe Paediatric Disorders v0.9 HEPACAM Louise Daugherty Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926; Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 for gene: HEPACAM
Severe Paediatric Disorders v0.9 CTC1 Louise Daugherty Added phenotypes Cerebroretinal microangiopathy with calcifications and cysts, 612199 for gene: CTC1
Severe Paediatric Disorders v0.9 ALG8 Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ih, 608104; Polycystic liver disease 3 with or without kidney cysts, 617874 for gene: ALG8
Severe Paediatric Disorders v0.9 AGRN Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 for gene: AGRN
Severe Paediatric Disorders v0.8 STS Louise Daugherty Added phenotypes Ichthyosis, X-linked, 308100 for gene: STS
Severe Paediatric Disorders v0.8 SNORD118 Louise Daugherty Added phenotypes Leukoencephalopathy, brain calcifications, and cysts, 614561 for gene: SNORD118
Severe Paediatric Disorders v0.8 MLC1 Louise Daugherty Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts, 604004 for gene: MLC1
Severe Paediatric Disorders v0.8 LRP5 Louise Daugherty Added phenotypes Osteoporosis-pseudoglioma syndrome, 259770; Exudative vitreoretinopathy 4, 601813; Polycystic liver disease 4 with or without kidney cysts, 617875; Hyperostosis, endosteal, 144750; Osteopetrosis, autosomal dominant 1, 607634; Osteosclerosis, 144750; van Buchem disease, type 2, 607636 for gene: LRP5
Severe Paediatric Disorders v0.8 HNF1B Louise Daugherty Added phenotypes Renal cysts and diabetes syndrome, 137920; Diabetes mellitus, noninsulin-dependent, 125853 for gene: HNF1B
Severe Paediatric Disorders v0.8 HEPACAM Louise Daugherty Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926; Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 for gene: HEPACAM
Severe Paediatric Disorders v0.8 CTC1 Louise Daugherty Added phenotypes Cerebroretinal microangiopathy with calcifications and cysts, 612199 for gene: CTC1
Severe Paediatric Disorders v0.8 ALG8 Louise Daugherty Added phenotypes Polycystic liver disease 3 with or without kidney cysts, 617874; Congenital disorder of glycosylation, type Ih, 608104 for gene: ALG8
Severe Paediatric Disorders v0.8 AGRN Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 for gene: AGRN
Severe Paediatric Disorders v0.8 STS Louise Daugherty Mode of inheritance for gene STS was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Ichthyosis, X-linked, 308100 for gene: STS
Severe Paediatric Disorders v0.8 SNORD118 Louise Daugherty Mode of inheritance for gene SNORD118 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leukoencephalopathy, brain calcifications, and cysts, 614561 for gene: SNORD118
Severe Paediatric Disorders v0.7 STS Louise Daugherty Source Next Generation Children Project was added to STS.
Severe Paediatric Disorders v0.5 STS Louise Daugherty Source Expert Review Green was added to STS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 STS Louise Daugherty gene: STS was added
gene: STS was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: STS was set to