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Severe Paediatric Disorders v0.17 MBOAT7 Louise Daugherty Mode of inheritance for gene MBOAT7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 OAT Louise Daugherty reviewed gene: OAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MBOAT7 Louise Daugherty reviewed gene: MBOAT7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 OAT Louise Daugherty Publications for gene OAT were updated from to 30847515
Severe Paediatric Disorders v0.11 MBOAT7 Louise Daugherty Publications for gene MBOAT7 were updated from to 30847515
Severe Paediatric Disorders v0.11 OAT Louise Daugherty Mode of inheritance for gene OAT was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.10 SRCAP Louise Daugherty Added phenotypes Floating-Harbor syndrome, 136140 for gene: SRCAP
Severe Paediatric Disorders v0.10 PRRT2 Louise Daugherty Added phenotypes Episodic kinesigenic dyskinesia 1, 128200; Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Seizures, benign familial infantile, 2, 605751 for gene: PRRT2
Severe Paediatric Disorders v0.10 OAT Louise Daugherty Added phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 for gene: OAT
Severe Paediatric Disorders v0.10 NKX2-1 Louise Daugherty Added phenotypes Chorea, hereditary benign, 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 for gene: NKX2-1
Severe Paediatric Disorders v0.10 MT-ATP8 Louise Daugherty Added phenotypes BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO; CARDIOMYOPATHY, INFANTILE HYPERTROPHIC; CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY for gene: MT-ATP8
Severe Paediatric Disorders v0.10 MBOAT7 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 57, 617188 for gene: MBOAT7
Severe Paediatric Disorders v0.10 CACNA1D Louise Daugherty Added phenotypes Primary aldosteronism, seizures, and neurologic abnormalities, 615474; Sinoatrial node dysfunction and deafness, 614896 for gene: CACNA1D
Severe Paediatric Disorders v0.9 SRCAP Louise Daugherty Added phenotypes Floating-Harbor syndrome, 136140 for gene: SRCAP
Severe Paediatric Disorders v0.9 PRRT2 Louise Daugherty Added phenotypes Episodic kinesigenic dyskinesia 1, 128200; Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Seizures, benign familial infantile, 2, 605751 for gene: PRRT2
Severe Paediatric Disorders v0.9 OAT Louise Daugherty Added phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 for gene: OAT
Severe Paediatric Disorders v0.9 NKX2-1 Louise Daugherty Added phenotypes Chorea, hereditary benign, 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 for gene: NKX2-1
Severe Paediatric Disorders v0.9 MT-ATP8 Louise Daugherty Added phenotypes BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO; CARDIOMYOPATHY, INFANTILE HYPERTROPHIC; CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY for gene: MT-ATP8
Severe Paediatric Disorders v0.9 MBOAT7 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 57, 617188 for gene: MBOAT7
Severe Paediatric Disorders v0.9 CACNA1D Louise Daugherty Added phenotypes Primary aldosteronism, seizures, and neurologic abnormalities, 615474; Sinoatrial node dysfunction and deafness, 614896 for gene: CACNA1D
Severe Paediatric Disorders v0.9 SRCAP Louise Daugherty Added phenotypes Floating-Harbor syndrome, 136140 for gene: SRCAP
Severe Paediatric Disorders v0.9 PRRT2 Louise Daugherty Added phenotypes Episodic kinesigenic dyskinesia 1, 128200; Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Seizures, benign familial infantile, 2, 605751 for gene: PRRT2
Severe Paediatric Disorders v0.9 OAT Louise Daugherty Added phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 for gene: OAT
Severe Paediatric Disorders v0.9 NKX2-1 Louise Daugherty Added phenotypes Chorea, hereditary benign, 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 for gene: NKX2-1
Severe Paediatric Disorders v0.9 MT-ATP8 Louise Daugherty Added phenotypes BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO; CARDIOMYOPATHY, INFANTILE HYPERTROPHIC; CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY for gene: MT-ATP8
Severe Paediatric Disorders v0.9 MBOAT7 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 57, 617188 for gene: MBOAT7
Severe Paediatric Disorders v0.9 CACNA1D Louise Daugherty Added phenotypes Primary aldosteronism, seizures, and neurologic abnormalities, 615474; Sinoatrial node dysfunction and deafness, 614896 for gene: CACNA1D
Severe Paediatric Disorders v0.8 SRCAP Louise Daugherty Added phenotypes Floating-Harbor syndrome, 136140 for gene: SRCAP
Severe Paediatric Disorders v0.8 PRRT2 Louise Daugherty Added phenotypes Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Seizures, benign familial infantile, 2, 605751; Episodic kinesigenic dyskinesia 1, 128200 for gene: PRRT2
Severe Paediatric Disorders v0.8 OAT Louise Daugherty Added phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 for gene: OAT
Severe Paediatric Disorders v0.8 NKX2-1 Louise Daugherty Added phenotypes Chorea, hereditary benign, 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 for gene: NKX2-1
Severe Paediatric Disorders v0.8 MT-ATP8 Louise Daugherty Added phenotypes CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY; CARDIOMYOPATHY, INFANTILE HYPERTROPHIC; BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO for gene: MT-ATP8
Severe Paediatric Disorders v0.8 MBOAT7 Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 57, 617188 for gene: MBOAT7
Severe Paediatric Disorders v0.8 CACNA1D Louise Daugherty Added phenotypes Primary aldosteronism, seizures, and neurologic abnormalities, 615474; Sinoatrial node dysfunction and deafness, 614896 for gene: CACNA1D
Severe Paediatric Disorders v0.8 SRCAP Louise Daugherty Mode of inheritance for gene SRCAP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Floating-Harbor syndrome, 136140 for gene: SRCAP
Severe Paediatric Disorders v0.7 OAT Louise Daugherty Source Next Generation Children Project was added to OAT.
Severe Paediatric Disorders v0.7 MBOAT7 Louise Daugherty Source Next Generation Children Project was added to MBOAT7.
Severe Paediatric Disorders v0.5 OAT Louise Daugherty Source Expert Review Green was added to OAT.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 MBOAT7 Louise Daugherty Source Expert Review Green was added to MBOAT7.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 OAT Louise Daugherty gene: OAT was added
gene: OAT was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: OAT was set to
Severe Paediatric Disorders v0.4 MBOAT7 Louise Daugherty gene: MBOAT7 was added
gene: MBOAT7 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: MBOAT7 was set to