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Severe Paediatric Disorders v0.17 IDS Louise Daugherty Mode of inheritance for gene IDS was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.12 IDS Louise Daugherty reviewed gene: IDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 IDS Louise Daugherty Publications for gene IDS were updated from to 30847515
Severe Paediatric Disorders v0.10 MT-ND1 Louise Daugherty Added phenotypes MELAS; LEBER OPTIC ATROPHY; MITOCHONDRIAL COMPLEX I DEFICIENCY; ALZHEIMER DISEASE; SIDS; DYSTONIA, ADULT-ONSET for gene: MT-ND1
Severe Paediatric Disorders v0.10 IDS Louise Daugherty Added phenotypes Mucopolysaccharidosis II, 309900 for gene: IDS
Severe Paediatric Disorders v0.10 CSF1R Louise Daugherty Added phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, 221820; Brain abnormalities, neurodegeneration, and dysosteosclerosis, 618476 for gene: CSF1R
Severe Paediatric Disorders v0.9 MT-ND1 Louise Daugherty Added phenotypes MELAS; LEBER OPTIC ATROPHY; MITOCHONDRIAL COMPLEX I DEFICIENCY; ALZHEIMER DISEASE; SIDS; DYSTONIA, ADULT-ONSET for gene: MT-ND1
Severe Paediatric Disorders v0.9 IDS Louise Daugherty Added phenotypes Mucopolysaccharidosis II, 309900 for gene: IDS
Severe Paediatric Disorders v0.9 CSF1R Louise Daugherty Added phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, 221820; Brain abnormalities, neurodegeneration, and dysosteosclerosis, 618476 for gene: CSF1R
Severe Paediatric Disorders v0.9 MT-ND1 Louise Daugherty Added phenotypes MELAS; LEBER OPTIC ATROPHY; MITOCHONDRIAL COMPLEX I DEFICIENCY; ALZHEIMER DISEASE; SIDS; DYSTONIA, ADULT-ONSET for gene: MT-ND1
Severe Paediatric Disorders v0.9 IDS Louise Daugherty Added phenotypes Mucopolysaccharidosis II, 309900 for gene: IDS
Severe Paediatric Disorders v0.9 CSF1R Louise Daugherty Added phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, 221820; Brain abnormalities, neurodegeneration, and dysosteosclerosis, 618476 for gene: CSF1R
Severe Paediatric Disorders v0.8 MT-ND1 Louise Daugherty Added phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY; MELAS; ALZHEIMER DISEASE; DYSTONIA, ADULT-ONSET; LEBER OPTIC ATROPHY; SIDS for gene: MT-ND1
Severe Paediatric Disorders v0.8 IDS Louise Daugherty Added phenotypes Mucopolysaccharidosis II, 309900 for gene: IDS
Severe Paediatric Disorders v0.8 CSF1R Louise Daugherty Added phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, 221820; Brain abnormalities, neurodegeneration, and dysosteosclerosis, 618476 for gene: CSF1R
Severe Paediatric Disorders v0.7 IDS Louise Daugherty Source Next Generation Children Project was added to IDS.
Severe Paediatric Disorders v0.5 IDS Louise Daugherty Source Expert Review Green was added to IDS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 IDS Louise Daugherty gene: IDS was added
gene: IDS was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: IDS was set to