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Severe Paediatric Disorders v0.12 RAX Louise Daugherty reviewed gene: RAX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 RAX Louise Daugherty Publications for gene RAX were updated from to 30847515
Severe Paediatric Disorders v0.11 RAX Louise Daugherty Mode of inheritance for gene RAX was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.10 RAX Louise Daugherty Added phenotypes Microphthalmia, isolated 3, 611038 for gene: RAX
Severe Paediatric Disorders v0.10 PSEN1 Louise Daugherty Added phenotypes ?Acne inversa, familial, 3, 613737; Alzheimer disease, type 3, 607822; Pick disease, 172700; Cardiomyopathy, dilated, 1U, 613694; Dementia, frontotemporal, 600274; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 for gene: PSEN1
Severe Paediatric Disorders v0.10 PNKP Louise Daugherty Added phenotypes Microcephaly, seizures, and developmental delay, 613402; Ataxia-oculomotor apraxia 4, 616267 for gene: PNKP
Severe Paediatric Disorders v0.10 FLCN Louise Daugherty Added phenotypes Pneumothorax, primary spontaneous, 173600; Birt-Hogg-Dube syndrome, 135150 for gene: FLCN
Severe Paediatric Disorders v0.10 APTX Louise Daugherty Added phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 for gene: APTX
Severe Paediatric Disorders v0.10 AFF2 Louise Daugherty Added phenotypes Mental retardation, X-linked, FRAXE type, 309548 for gene: AFF2
Severe Paediatric Disorders v0.9 RAX Louise Daugherty Added phenotypes Microphthalmia, isolated 3, 611038 for gene: RAX
Severe Paediatric Disorders v0.9 PSEN1 Louise Daugherty Added phenotypes ?Acne inversa, familial, 3, 613737; Alzheimer disease, type 3, 607822; Pick disease, 172700; Cardiomyopathy, dilated, 1U, 613694; Dementia, frontotemporal, 600274; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 for gene: PSEN1
Severe Paediatric Disorders v0.9 PNKP Louise Daugherty Added phenotypes Microcephaly, seizures, and developmental delay, 613402; Ataxia-oculomotor apraxia 4, 616267 for gene: PNKP
Severe Paediatric Disorders v0.9 FLCN Louise Daugherty Added phenotypes Pneumothorax, primary spontaneous, 173600; Birt-Hogg-Dube syndrome, 135150 for gene: FLCN
Severe Paediatric Disorders v0.9 APTX Louise Daugherty Added phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 for gene: APTX
Severe Paediatric Disorders v0.9 AFF2 Louise Daugherty Added phenotypes Mental retardation, X-linked, FRAXE type, 309548 for gene: AFF2
Severe Paediatric Disorders v0.9 RAX Louise Daugherty Added phenotypes Microphthalmia, isolated 3, 611038 for gene: RAX
Severe Paediatric Disorders v0.9 PSEN1 Louise Daugherty Added phenotypes ?Acne inversa, familial, 3, 613737; Alzheimer disease, type 3, 607822; Pick disease, 172700; Cardiomyopathy, dilated, 1U, 613694; Dementia, frontotemporal, 600274; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 for gene: PSEN1
Severe Paediatric Disorders v0.9 PNKP Louise Daugherty Added phenotypes Microcephaly, seizures, and developmental delay, 613402; Ataxia-oculomotor apraxia 4, 616267 for gene: PNKP
Severe Paediatric Disorders v0.9 FLCN Louise Daugherty Added phenotypes Pneumothorax, primary spontaneous, 173600; Birt-Hogg-Dube syndrome, 135150 for gene: FLCN
Severe Paediatric Disorders v0.9 APTX Louise Daugherty Added phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 for gene: APTX
Severe Paediatric Disorders v0.9 AFF2 Louise Daugherty Added phenotypes Mental retardation, X-linked, FRAXE type, 309548 for gene: AFF2
Severe Paediatric Disorders v0.8 RAX Louise Daugherty Added phenotypes Microphthalmia, isolated 3, 611038 for gene: RAX
Severe Paediatric Disorders v0.8 PSEN1 Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1U, 613694; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822; Dementia, frontotemporal, 600274; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822; ?Acne inversa, familial, 3, 613737; Pick disease, 172700; Alzheimer disease, type 3, 607822 for gene: PSEN1
Severe Paediatric Disorders v0.8 PNKP Louise Daugherty Added phenotypes Microcephaly, seizures, and developmental delay, 613402; Ataxia-oculomotor apraxia 4, 616267 for gene: PNKP
Severe Paediatric Disorders v0.8 FLCN Louise Daugherty Added phenotypes Pneumothorax, primary spontaneous, 173600; Birt-Hogg-Dube syndrome, 135150 for gene: FLCN
Severe Paediatric Disorders v0.8 APTX Louise Daugherty Added phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 for gene: APTX
Severe Paediatric Disorders v0.8 AFF2 Louise Daugherty Added phenotypes Mental retardation, X-linked, FRAXE type, 309548 for gene: AFF2
Severe Paediatric Disorders v0.7 RAX Louise Daugherty Source Next Generation Children Project was added to RAX.
Severe Paediatric Disorders v0.5 RAX Louise Daugherty Source Expert Review Green was added to RAX.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 RAX Louise Daugherty gene: RAX was added
gene: RAX was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: RAX was set to