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Severe Paediatric Disorders v0.17 ACAN Louise Daugherty Mode of inheritance for gene ACAN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 ACAN Louise Daugherty reviewed gene: ACAN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 ACAN Louise Daugherty Publications for gene ACAN were updated from to 30847515
Severe Paediatric Disorders v0.10 VPS13A Louise Daugherty Added phenotypes Choreoacanthocytosis, 200150 for gene: VPS13A
Severe Paediatric Disorders v0.10 INSR Louise Daugherty Added phenotypes Leprechaunism, 246200; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Rabson-Mendenhall syndrome, 262190; Hyperinsulinemic hypoglycemia, familial, 5, 609968 for gene: INSR
Severe Paediatric Disorders v0.10 FGFR3 Louise Daugherty Added phenotypes Thanatophoric dysplasia, type II, 187601; Muenke syndrome, 602849; SADDAN, 616482; Crouzon syndrome with acanthosis nigricans, 612247; CATSHL syndrome, 610474; Achondroplasia, 100800; LADD syndrome, 149730; Thanatophoric dysplasia, type I, 187600; Hypochondroplasia, 146000 for gene: FGFR3
Severe Paediatric Disorders v0.10 DSP Louise Daugherty Added phenotypes Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821; Skin fragility-woolly hair syndrome, 607655; Arrhythmogenic right ventricular dysplasia 8, 607450; Keratosis palmoplantaris striata II, 612908; Epidermolysis bullosa, lethal acantholytic, 609638 for gene: DSP
Severe Paediatric Disorders v0.10 ACAN Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia, aggrecan type, 612813; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800; ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 for gene: ACAN
Severe Paediatric Disorders v0.9 VPS13A Louise Daugherty Added phenotypes Choreoacanthocytosis, 200150 for gene: VPS13A
Severe Paediatric Disorders v0.9 INSR Louise Daugherty Added phenotypes Leprechaunism, 246200; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Rabson-Mendenhall syndrome, 262190; Hyperinsulinemic hypoglycemia, familial, 5, 609968 for gene: INSR
Severe Paediatric Disorders v0.9 FGFR3 Louise Daugherty Added phenotypes Thanatophoric dysplasia, type II, 187601; Muenke syndrome, 602849; SADDAN, 616482; Crouzon syndrome with acanthosis nigricans, 612247; CATSHL syndrome, 610474; Achondroplasia, 100800; LADD syndrome, 149730; Thanatophoric dysplasia, type I, 187600; Hypochondroplasia, 146000 for gene: FGFR3
Severe Paediatric Disorders v0.9 DSP Louise Daugherty Added phenotypes Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821; Skin fragility-woolly hair syndrome, 607655; Arrhythmogenic right ventricular dysplasia 8, 607450; Keratosis palmoplantaris striata II, 612908; Epidermolysis bullosa, lethal acantholytic, 609638 for gene: DSP
Severe Paediatric Disorders v0.9 ACAN Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia, aggrecan type, 612813; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800; ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 for gene: ACAN
Severe Paediatric Disorders v0.9 VPS13A Louise Daugherty Added phenotypes Choreoacanthocytosis, 200150 for gene: VPS13A
Severe Paediatric Disorders v0.9 INSR Louise Daugherty Added phenotypes Leprechaunism, 246200; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Rabson-Mendenhall syndrome, 262190; Hyperinsulinemic hypoglycemia, familial, 5, 609968 for gene: INSR
Severe Paediatric Disorders v0.9 FGFR3 Louise Daugherty Added phenotypes Thanatophoric dysplasia, type II, 187601; Muenke syndrome, 602849; SADDAN, 616482; Crouzon syndrome with acanthosis nigricans, 612247; CATSHL syndrome, 610474; Achondroplasia, 100800; LADD syndrome, 149730; Thanatophoric dysplasia, type I, 187600; Hypochondroplasia, 146000 for gene: FGFR3
Severe Paediatric Disorders v0.9 DSP Louise Daugherty Added phenotypes Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821; Skin fragility-woolly hair syndrome, 607655; Arrhythmogenic right ventricular dysplasia 8, 607450; Keratosis palmoplantaris striata II, 612908; Epidermolysis bullosa, lethal acantholytic, 609638 for gene: DSP
Severe Paediatric Disorders v0.9 ACAN Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia, aggrecan type, 612813; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800; ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 for gene: ACAN
Severe Paediatric Disorders v0.8 VPS13A Louise Daugherty Added phenotypes Choreoacanthocytosis, 200150 for gene: VPS13A
Severe Paediatric Disorders v0.8 INSR Louise Daugherty Added phenotypes Hyperinsulinemic hypoglycemia, familial, 5, 609968; Leprechaunism, 246200; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Rabson-Mendenhall syndrome, 262190 for gene: INSR
Severe Paediatric Disorders v0.8 FGFR3 Louise Daugherty Added phenotypes Achondroplasia, 100800; Muenke syndrome, 602849; SADDAN, 616482; Hypochondroplasia, 146000; LADD syndrome, 149730; Crouzon syndrome with acanthosis nigricans, 612247; Thanatophoric dysplasia, type I, 187600; CATSHL syndrome, 610474; Thanatophoric dysplasia, type II, 187601 for gene: FGFR3
Severe Paediatric Disorders v0.8 DSP Louise Daugherty Added phenotypes Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676; Keratosis palmoplantaris striata II, 612908; Skin fragility-woolly hair syndrome, 607655; Epidermolysis bullosa, lethal acantholytic, 609638; Arrhythmogenic right ventricular dysplasia 8, 607450; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 for gene: DSP
Severe Paediatric Disorders v0.8 ACAN Louise Daugherty Added phenotypes Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800; Spondyloepimetaphyseal dysplasia, aggrecan type, 612813; ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 for gene: ACAN
Severe Paediatric Disorders v0.8 VPS13A Louise Daugherty Mode of inheritance for gene VPS13A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Choreoacanthocytosis, 200150 for gene: VPS13A
Severe Paediatric Disorders v0.7 ACAN Louise Daugherty Source Next Generation Children Project was added to ACAN.
Severe Paediatric Disorders v0.5 ACAN Louise Daugherty Source Expert Review Green was added to ACAN.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 ACAN Louise Daugherty gene: ACAN was added
gene: ACAN was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: ACAN was set to