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Severe Paediatric Disorders v1.150 NFASC Sarah Leigh Phenotypes for gene: NFASC were changed from Neurodevelopmental disorder with central and peripheral motor dysfunction, 618356 to Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356; neurodevelopmental disorder with central and peripheral motor dysfunction, MONDO:003269
Severe Paediatric Disorders v1.59 MYL1 Arina Puzriakova Phenotypes for gene: MYL1 were changed from Myopathy, congenital, with fast-twitch (type II) fiber atrophy, 618414 to Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414; Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109
Severe Paediatric Disorders v0.17 FASLG Louise Daugherty Mode of inheritance for gene FASLG was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 FAS Louise Daugherty Mode of inheritance for gene FAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.12 FASTKD2 Louise Daugherty reviewed gene: FASTKD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 NFASC Louise Daugherty reviewed gene: NFASC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FASLG Louise Daugherty reviewed gene: FASLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FAS Louise Daugherty reviewed gene: FAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 FASTKD2 Louise Daugherty Publications for gene FASTKD2 were updated from to 30847515
Severe Paediatric Disorders v0.11 NFASC Louise Daugherty Publications for gene NFASC were updated from to 30847515
Severe Paediatric Disorders v0.11 FASLG Louise Daugherty Publications for gene FASLG were updated from to 30847515
Severe Paediatric Disorders v0.11 FAS Louise Daugherty Publications for gene FAS were updated from to 30847515
Severe Paediatric Disorders v0.11 NFASC Louise Daugherty Mode of inheritance for gene NFASC was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.10 FASTKD2 Louise Daugherty Added phenotypes ?Mitochondrial complex IV deficiency, 220110 for gene: FASTKD2
Severe Paediatric Disorders v0.10 SMCHD1 Louise Daugherty Added phenotypes Bosma arhinia microphthalmia syndrome, 603457; Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 for gene: SMCHD1
Severe Paediatric Disorders v0.10 NFASC Louise Daugherty Added phenotypes Neurodevelopmental disorder with central and peripheral motor dysfunction, 618356 for gene: NFASC
Severe Paediatric Disorders v0.10 MYL1 Louise Daugherty Added phenotypes Myopathy, congenital, with fast-twitch (type II) fiber atrophy, 618414 for gene: MYL1
Severe Paediatric Disorders v0.10 FASLG Louise Daugherty Added phenotypes Autoimmune lymphoproliferative syndrome, type IB, 601859 for gene: FASLG
Severe Paediatric Disorders v0.10 FAS Louise Daugherty Added phenotypes Autoimmune lymphoproliferative syndrome, type IA, 601859 for gene: FAS
Severe Paediatric Disorders v0.10 CHRNE Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Myasthenic syndrome, congenital, 4A, slow-channel, 605809 for gene: CHRNE
Severe Paediatric Disorders v0.10 CHRND Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 for gene: CHRND
Severe Paediatric Disorders v0.10 CHRNA1 Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; Myasthenic syndrome, congenital, 1B, fast-channel, 608930; Myasthenic syndrome, congenital, 1A, slow-channel, 601462 for gene: CHRNA1
Severe Paediatric Disorders v0.9 FASTKD2 Louise Daugherty Added phenotypes ?Mitochondrial complex IV deficiency, 220110 for gene: FASTKD2
Severe Paediatric Disorders v0.9 SMCHD1 Louise Daugherty Added phenotypes Bosma arhinia microphthalmia syndrome, 603457; Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 for gene: SMCHD1
Severe Paediatric Disorders v0.9 NFASC Louise Daugherty Added phenotypes Neurodevelopmental disorder with central and peripheral motor dysfunction, 618356 for gene: NFASC
Severe Paediatric Disorders v0.9 MYL1 Louise Daugherty Added phenotypes Myopathy, congenital, with fast-twitch (type II) fiber atrophy, 618414 for gene: MYL1
Severe Paediatric Disorders v0.9 FASLG Louise Daugherty Added phenotypes Autoimmune lymphoproliferative syndrome, type IB, 601859 for gene: FASLG
Severe Paediatric Disorders v0.9 FAS Louise Daugherty Added phenotypes Autoimmune lymphoproliferative syndrome, type IA, 601859 for gene: FAS
Severe Paediatric Disorders v0.9 CHRNE Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Myasthenic syndrome, congenital, 4A, slow-channel, 605809 for gene: CHRNE
Severe Paediatric Disorders v0.9 CHRND Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 for gene: CHRND
Severe Paediatric Disorders v0.9 CHRNA1 Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; Myasthenic syndrome, congenital, 1B, fast-channel, 608930; Myasthenic syndrome, congenital, 1A, slow-channel, 601462 for gene: CHRNA1
Severe Paediatric Disorders v0.9 FASTKD2 Louise Daugherty Added phenotypes ?Mitochondrial complex IV deficiency, 220110 for gene: FASTKD2
Severe Paediatric Disorders v0.9 SMCHD1 Louise Daugherty Added phenotypes Bosma arhinia microphthalmia syndrome, 603457; Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 for gene: SMCHD1
Severe Paediatric Disorders v0.9 NFASC Louise Daugherty Added phenotypes Neurodevelopmental disorder with central and peripheral motor dysfunction, 618356 for gene: NFASC
Severe Paediatric Disorders v0.9 MYL1 Louise Daugherty Added phenotypes Myopathy, congenital, with fast-twitch (type II) fiber atrophy, 618414 for gene: MYL1
Severe Paediatric Disorders v0.9 FASLG Louise Daugherty Added phenotypes Autoimmune lymphoproliferative syndrome, type IB, 601859 for gene: FASLG
Severe Paediatric Disorders v0.9 FAS Louise Daugherty Added phenotypes Autoimmune lymphoproliferative syndrome, type IA, 601859 for gene: FAS
Severe Paediatric Disorders v0.9 CHRNE Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Myasthenic syndrome, congenital, 4A, slow-channel, 605809 for gene: CHRNE
Severe Paediatric Disorders v0.9 CHRND Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 for gene: CHRND
Severe Paediatric Disorders v0.9 CHRNA1 Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; Myasthenic syndrome, congenital, 1B, fast-channel, 608930; Myasthenic syndrome, congenital, 1A, slow-channel, 601462 for gene: CHRNA1
Severe Paediatric Disorders v0.8 FASTKD2 Louise Daugherty Added phenotypes ?Mitochondrial complex IV deficiency, 220110 for gene: FASTKD2
Severe Paediatric Disorders v0.8 SMCHD1 Louise Daugherty Added phenotypes Fascioscapulohumeral muscular dystrophy 2, digenic, 158901; Bosma arhinia microphthalmia syndrome, 603457 for gene: SMCHD1
Severe Paediatric Disorders v0.8 NFASC Louise Daugherty Added phenotypes Neurodevelopmental disorder with central and peripheral motor dysfunction, 618356 for gene: NFASC
Severe Paediatric Disorders v0.8 MYL1 Louise Daugherty Added phenotypes Myopathy, congenital, with fast-twitch (type II) fiber atrophy, 618414 for gene: MYL1
Severe Paediatric Disorders v0.8 FASLG Louise Daugherty Added phenotypes Autoimmune lymphoproliferative syndrome, type IB, 601859 for gene: FASLG
Severe Paediatric Disorders v0.8 FAS Louise Daugherty Added phenotypes Autoimmune lymphoproliferative syndrome, type IA, 601859 for gene: FAS
Severe Paediatric Disorders v0.8 CHRNE Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4A, slow-channel, 605809; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 for gene: CHRNE
Severe Paediatric Disorders v0.8 CHRND Louise Daugherty Added phenotypes ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; Multiple pterygium syndrome, lethal type, 253290; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 for gene: CHRND
Severe Paediatric Disorders v0.8 CHRNA1 Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 1B, fast-channel, 608930; Myasthenic syndrome, congenital, 1A, slow-channel, 601462; Multiple pterygium syndrome, lethal type, 253290 for gene: CHRNA1
Severe Paediatric Disorders v0.8 FASTKD2 Louise Daugherty Mode of inheritance for gene FASTKD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Mitochondrial complex IV deficiency, 220110 for gene: FASTKD2
Severe Paediatric Disorders v0.8 SMCHD1 Louise Daugherty Mode of inheritance for gene SMCHD1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Bosma arhinia microphthalmia syndrome, 603457; Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 for gene: SMCHD1
Severe Paediatric Disorders v0.7 FASTKD2 Louise Daugherty Source Next Generation Children Project was added to FASTKD2.
Severe Paediatric Disorders v0.7 NFASC Louise Daugherty Source Next Generation Children Project was added to NFASC.
Severe Paediatric Disorders v0.7 FASLG Louise Daugherty Source Next Generation Children Project was added to FASLG.
Severe Paediatric Disorders v0.7 FAS Louise Daugherty Source Next Generation Children Project was added to FAS.
Severe Paediatric Disorders v0.5 FASTKD2 Louise Daugherty Source Expert Review Amber was added to FASTKD2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Severe Paediatric Disorders v0.5 NFASC Louise Daugherty Source Expert Review Green was added to NFASC.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 FASLG Louise Daugherty Source Expert Review Green was added to FASLG.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 FAS Louise Daugherty Source Expert Review Green was added to FAS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 FASTKD2 Louise Daugherty gene: FASTKD2 was added
gene: FASTKD2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: FASTKD2 was set to
Severe Paediatric Disorders v0.4 NFASC Louise Daugherty gene: NFASC was added
gene: NFASC was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: NFASC was set to
Severe Paediatric Disorders v0.4 FASLG Louise Daugherty gene: FASLG was added
gene: FASLG was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: FASLG was set to
Severe Paediatric Disorders v0.4 FAS Louise Daugherty gene: FAS was added
gene: FAS was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: FAS was set to