Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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 |
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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) |
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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 |