Activity

Filter

Cancel
Date Panel Item Activity
45 actions
Severe Paediatric Disorders v0.17 DES Louise Daugherty Mode of inheritance for gene DES was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 DES Louise Daugherty reviewed gene: DES: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 DES Louise Daugherty Publications for gene DES were updated from to 30847515
Severe Paediatric Disorders v0.10 XYLT1 Louise Daugherty Added phenotypes Desbuquois dysplasia 2, 615777 for gene: XYLT1
Severe Paediatric Disorders v0.10 WAC Louise Daugherty Added phenotypes Desanto-Shinawi syndrome, 616708 for gene: WAC
Severe Paediatric Disorders v0.10 SMARCA2 Louise Daugherty Added phenotypes Nicolaides-Baraitser syndrome, 601358 for gene: SMARCA2
Severe Paediatric Disorders v0.10 POLG Louise Daugherty Added phenotypes Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662; Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Progressive external ophthalmoplegia, autosomal recessive 1, 258450; Progressive external ophthalmoplegia, autosomal dominant 1, 157640 for gene: POLG
Severe Paediatric Disorders v0.10 JAM3 Louise Daugherty Added phenotypes Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 for gene: JAM3
Severe Paediatric Disorders v0.10 DHCR24 Louise Daugherty Added phenotypes Desmosterolosis, 602398 for gene: DHCR24
Severe Paediatric Disorders v0.10 DES Louise Daugherty Added phenotypes Myopathy, myofibrillar, 1, 601419; Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400; Cardiomyopathy, dilated, 1I, 604765 for gene: DES
Severe Paediatric Disorders v0.10 CANT1 Louise Daugherty Added phenotypes Desbuquois dysplasia 1, 251450; Epiphyseal dysplasia, multiple, 7, 617719 for gene: CANT1
Severe Paediatric Disorders v0.10 APC Louise Daugherty Added phenotypes Brain tumor-polyposis syndrome 2, 175100; Adenomatous polyposis coli, 175100; Desmoid disease, hereditary, 135290; Gardner syndrome, 175100 for gene: APC
Severe Paediatric Disorders v0.9 XYLT1 Louise Daugherty Added phenotypes Desbuquois dysplasia 2, 615777 for gene: XYLT1
Severe Paediatric Disorders v0.9 WAC Louise Daugherty Added phenotypes Desanto-Shinawi syndrome, 616708 for gene: WAC
Severe Paediatric Disorders v0.9 SMARCA2 Louise Daugherty Added phenotypes Nicolaides-Baraitser syndrome, 601358 for gene: SMARCA2
Severe Paediatric Disorders v0.9 POLG Louise Daugherty Added phenotypes Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662; Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Progressive external ophthalmoplegia, autosomal recessive 1, 258450; Progressive external ophthalmoplegia, autosomal dominant 1, 157640 for gene: POLG
Severe Paediatric Disorders v0.9 JAM3 Louise Daugherty Added phenotypes Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 for gene: JAM3
Severe Paediatric Disorders v0.9 DHCR24 Louise Daugherty Added phenotypes Desmosterolosis, 602398 for gene: DHCR24
Severe Paediatric Disorders v0.9 DES Louise Daugherty Added phenotypes Myopathy, myofibrillar, 1, 601419; Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400; Cardiomyopathy, dilated, 1I, 604765 for gene: DES
Severe Paediatric Disorders v0.9 CANT1 Louise Daugherty Added phenotypes Desbuquois dysplasia 1, 251450; Epiphyseal dysplasia, multiple, 7, 617719 for gene: CANT1
Severe Paediatric Disorders v0.9 APC Louise Daugherty Added phenotypes Brain tumor-polyposis syndrome 2, 175100; Adenomatous polyposis coli, 175100; Desmoid disease, hereditary, 135290; Gardner syndrome, 175100 for gene: APC
Severe Paediatric Disorders v0.9 XYLT1 Louise Daugherty Added phenotypes Desbuquois dysplasia 2, 615777 for gene: XYLT1
Severe Paediatric Disorders v0.9 WAC Louise Daugherty Added phenotypes Desanto-Shinawi syndrome, 616708 for gene: WAC
Severe Paediatric Disorders v0.9 SMARCA2 Louise Daugherty Added phenotypes Nicolaides-Baraitser syndrome, 601358 for gene: SMARCA2
Severe Paediatric Disorders v0.9 POLG Louise Daugherty Added phenotypes Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662; Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Progressive external ophthalmoplegia, autosomal recessive 1, 258450; Progressive external ophthalmoplegia, autosomal dominant 1, 157640 for gene: POLG
Severe Paediatric Disorders v0.9 JAM3 Louise Daugherty Added phenotypes Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 for gene: JAM3
Severe Paediatric Disorders v0.9 DHCR24 Louise Daugherty Added phenotypes Desmosterolosis, 602398 for gene: DHCR24
Severe Paediatric Disorders v0.9 DES Louise Daugherty Added phenotypes Myopathy, myofibrillar, 1, 601419; Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400; Cardiomyopathy, dilated, 1I, 604765 for gene: DES
Severe Paediatric Disorders v0.9 CANT1 Louise Daugherty Added phenotypes Desbuquois dysplasia 1, 251450; Epiphyseal dysplasia, multiple, 7, 617719 for gene: CANT1
Severe Paediatric Disorders v0.9 APC Louise Daugherty Added phenotypes Brain tumor-polyposis syndrome 2, 175100; Adenomatous polyposis coli, 175100; Desmoid disease, hereditary, 135290; Gardner syndrome, 175100 for gene: APC
Severe Paediatric Disorders v0.8 XYLT1 Louise Daugherty Added phenotypes Desbuquois dysplasia 2, 615777 for gene: XYLT1
Severe Paediatric Disorders v0.8 WAC Louise Daugherty Added phenotypes Desanto-Shinawi syndrome, 616708 for gene: WAC
Severe Paediatric Disorders v0.8 SMARCA2 Louise Daugherty Added phenotypes Nicolaides-Baraitser syndrome, 601358 for gene: SMARCA2
Severe Paediatric Disorders v0.8 POLG Louise Daugherty Added phenotypes Progressive external ophthalmoplegia, autosomal recessive 1, 258450; Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Progressive external ophthalmoplegia, autosomal dominant 1, 157640; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 for gene: POLG
Severe Paediatric Disorders v0.8 JAM3 Louise Daugherty Added phenotypes Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 for gene: JAM3
Severe Paediatric Disorders v0.8 DHCR24 Louise Daugherty Added phenotypes Desmosterolosis, 602398 for gene: DHCR24
Severe Paediatric Disorders v0.8 DES Louise Daugherty Added phenotypes Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400; Myopathy, myofibrillar, 1, 601419; Cardiomyopathy, dilated, 1I, 604765 for gene: DES
Severe Paediatric Disorders v0.8 CANT1 Louise Daugherty Added phenotypes Epiphyseal dysplasia, multiple, 7, 617719; Desbuquois dysplasia 1, 251450 for gene: CANT1
Severe Paediatric Disorders v0.8 APC Louise Daugherty Added phenotypes Brain tumor-polyposis syndrome 2, 175100; Desmoid disease, hereditary, 135290; Adenomatous polyposis coli, 175100; Gardner syndrome, 175100 for gene: APC
Severe Paediatric Disorders v0.8 XYLT1 Louise Daugherty Mode of inheritance for gene XYLT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Desbuquois dysplasia 2, 615777 for gene: XYLT1
Severe Paediatric Disorders v0.8 WAC Louise Daugherty Mode of inheritance for gene WAC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Desanto-Shinawi syndrome, 616708 for gene: WAC
Severe Paediatric Disorders v0.8 SMARCA2 Louise Daugherty Mode of inheritance for gene SMARCA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Nicolaides-Baraitser syndrome, 601358 for gene: SMARCA2
Severe Paediatric Disorders v0.7 DES Louise Daugherty Source Next Generation Children Project was added to DES.
Severe Paediatric Disorders v0.5 DES Louise Daugherty Source Expert Review Green was added to DES.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 DES Louise Daugherty gene: DES was added
gene: DES was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: DES was set to