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Severe Paediatric Disorders v1.105 PSTPIP1 Arina Puzriakova Phenotypes for gene: PSTPIP1 were changed from Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416
Severe Paediatric Disorders v0.17 GANAB Louise Daugherty Mode of inheritance for gene GANAB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.17 GAN Louise Daugherty Mode of inheritance for gene GAN was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 GANAB Louise Daugherty reviewed gene: GANAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GAN Louise Daugherty reviewed gene: GAN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 GANAB Louise Daugherty Publications for gene GANAB were updated from to 30847515
Severe Paediatric Disorders v0.11 GAN Louise Daugherty Publications for gene GAN were updated from to 30847515
Severe Paediatric Disorders v0.10 XPR1 Louise Daugherty Added phenotypes Basal ganglia calcification, idiopathic, 6, 616413 for gene: XPR1
Severe Paediatric Disorders v0.10 SLC39A14 Louise Daugherty Added phenotypes Hypermanganesemia with dystonia 2, 617013; ?Hyperostosis cranalis interna, 144755 for gene: SLC39A14
Severe Paediatric Disorders v0.10 SLC30A10 Louise Daugherty Added phenotypes Hypermanganesemia with dystonia 1, 613280 for gene: SLC30A10
Severe Paediatric Disorders v0.10 SLC20A2 Louise Daugherty Added phenotypes Basal ganglia calcification, idiopathic, 1, 213600 for gene: SLC20A2
Severe Paediatric Disorders v0.10 SDHD Louise Daugherty Added phenotypes Mitochondrial complex II deficiency, 252011; Paragangliomas 1, with or without deafness, 168000; Paraganglioma and gastric stromal sarcoma, 606864; Pheochromocytoma, 171300 for gene: SDHD
Severe Paediatric Disorders v0.10 SDHB Louise Daugherty Added phenotypes Paraganglioma and gastric stromal sarcoma, 606864; Gastrointestinal stromal tumor, 606764; Paragangliomas 4, 115310; Pheochromocytoma, 171300 for gene: SDHB
Severe Paediatric Disorders v0.10 SDHA Louise Daugherty Added phenotypes Paragangliomas 5, 614165; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642 for gene: SDHA
Severe Paediatric Disorders v0.10 RAD21 Louise Daugherty Added phenotypes ?Mungan syndrome, 611376; Cornelia de Lange syndrome 4, 614701 for gene: RAD21
Severe Paediatric Disorders v0.10 PSTPIP1 Louise Daugherty Added phenotypes Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 for gene: PSTPIP1
Severe Paediatric Disorders v0.10 PDGFRB Louise Daugherty Added phenotypes Myofibromatosis, infantile, 1, 228550; Kosaki overgrowth syndrome, 616592; Premature aging syndrome, Penttinen type, 601812; Basal ganglia calcification, idiopathic, 4, 615007; Myeloproliferative disorder with eosinophilia, 131440 for gene: PDGFRB
Severe Paediatric Disorders v0.10 PDGFB Louise Daugherty Added phenotypes Meningioma, SIS-related, 607174; Basal ganglia calcification, idiopathic, 5, 615483; Dermatofibrosarcoma protuberans, 607907 for gene: PDGFB
Severe Paediatric Disorders v0.10 MECR Louise Daugherty Added phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282 for gene: MECR
Severe Paediatric Disorders v0.10 HEXA Louise Daugherty Added phenotypes [Hex A pseudodeficiency], 272800; GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800 for gene: HEXA
Severe Paediatric Disorders v0.10 GM2A Louise Daugherty Added phenotypes GM2-gangliosidosis, AB variant, 272750 for gene: GM2A
Severe Paediatric Disorders v0.10 GLB1 Louise Daugherty Added phenotypes GM1-gangliosidosis, type I, 230500; GM1-gangliosidosis, type III, 230650; Mucopolysaccharidosis type IVB (Morquio), 253010; GM1-gangliosidosis, type II, 230600 for gene: GLB1
Severe Paediatric Disorders v0.10 GANAB Louise Daugherty Added phenotypes Polycystic kidney disease 3, 600666 for gene: GANAB
Severe Paediatric Disorders v0.10 GAN Louise Daugherty Added phenotypes Giant axonal neuropathy-1, 256850 for gene: GAN
Severe Paediatric Disorders v0.10 CLCN7 Louise Daugherty Added phenotypes Osteopetrosis, autosomal recessive 4, 611490; Hypopigmentation, organomegaly, and delayed myelination and development, 618541; Osteopetrosis, autosomal dominant 2, 166600 for gene: CLCN7
Severe Paediatric Disorders v0.10 BCL11A Louise Daugherty Added phenotypes Dias-Logan syndrome, 617101 for gene: BCL11A
Severe Paediatric Disorders v0.9 XPR1 Louise Daugherty Added phenotypes Basal ganglia calcification, idiopathic, 6, 616413 for gene: XPR1
Severe Paediatric Disorders v0.9 SLC39A14 Louise Daugherty Added phenotypes Hypermanganesemia with dystonia 2, 617013; ?Hyperostosis cranalis interna, 144755 for gene: SLC39A14
Severe Paediatric Disorders v0.9 SLC30A10 Louise Daugherty Added phenotypes Hypermanganesemia with dystonia 1, 613280 for gene: SLC30A10
Severe Paediatric Disorders v0.9 SLC20A2 Louise Daugherty Added phenotypes Basal ganglia calcification, idiopathic, 1, 213600 for gene: SLC20A2
Severe Paediatric Disorders v0.9 SDHD Louise Daugherty Added phenotypes Mitochondrial complex II deficiency, 252011; Paragangliomas 1, with or without deafness, 168000; Paraganglioma and gastric stromal sarcoma, 606864; Pheochromocytoma, 171300 for gene: SDHD
Severe Paediatric Disorders v0.9 SDHB Louise Daugherty Added phenotypes Paraganglioma and gastric stromal sarcoma, 606864; Gastrointestinal stromal tumor, 606764; Paragangliomas 4, 115310; Pheochromocytoma, 171300 for gene: SDHB
Severe Paediatric Disorders v0.9 SDHA Louise Daugherty Added phenotypes Paragangliomas 5, 614165; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642 for gene: SDHA
Severe Paediatric Disorders v0.9 RAD21 Louise Daugherty Added phenotypes ?Mungan syndrome, 611376; Cornelia de Lange syndrome 4, 614701 for gene: RAD21
Severe Paediatric Disorders v0.9 PSTPIP1 Louise Daugherty Added phenotypes Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 for gene: PSTPIP1
Severe Paediatric Disorders v0.9 PDGFRB Louise Daugherty Added phenotypes Myofibromatosis, infantile, 1, 228550; Kosaki overgrowth syndrome, 616592; Premature aging syndrome, Penttinen type, 601812; Basal ganglia calcification, idiopathic, 4, 615007; Myeloproliferative disorder with eosinophilia, 131440 for gene: PDGFRB
Severe Paediatric Disorders v0.9 PDGFB Louise Daugherty Added phenotypes Meningioma, SIS-related, 607174; Basal ganglia calcification, idiopathic, 5, 615483; Dermatofibrosarcoma protuberans, 607907 for gene: PDGFB
Severe Paediatric Disorders v0.9 MECR Louise Daugherty Added phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282 for gene: MECR
Severe Paediatric Disorders v0.9 HEXA Louise Daugherty Added phenotypes [Hex A pseudodeficiency], 272800; GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800 for gene: HEXA
Severe Paediatric Disorders v0.9 GM2A Louise Daugherty Added phenotypes GM2-gangliosidosis, AB variant, 272750 for gene: GM2A
Severe Paediatric Disorders v0.9 GLB1 Louise Daugherty Added phenotypes GM1-gangliosidosis, type I, 230500; GM1-gangliosidosis, type III, 230650; Mucopolysaccharidosis type IVB (Morquio), 253010; GM1-gangliosidosis, type II, 230600 for gene: GLB1
Severe Paediatric Disorders v0.9 GANAB Louise Daugherty Added phenotypes Polycystic kidney disease 3, 600666 for gene: GANAB
Severe Paediatric Disorders v0.9 GAN Louise Daugherty Added phenotypes Giant axonal neuropathy-1, 256850 for gene: GAN
Severe Paediatric Disorders v0.9 CLCN7 Louise Daugherty Added phenotypes Osteopetrosis, autosomal recessive 4, 611490; Hypopigmentation, organomegaly, and delayed myelination and development, 618541; Osteopetrosis, autosomal dominant 2, 166600 for gene: CLCN7
Severe Paediatric Disorders v0.9 BCL11A Louise Daugherty Added phenotypes Dias-Logan syndrome, 617101 for gene: BCL11A
Severe Paediatric Disorders v0.9 XPR1 Louise Daugherty Added phenotypes Basal ganglia calcification, idiopathic, 6, 616413 for gene: XPR1
Severe Paediatric Disorders v0.9 SLC39A14 Louise Daugherty Added phenotypes Hypermanganesemia with dystonia 2, 617013; ?Hyperostosis cranalis interna, 144755 for gene: SLC39A14
Severe Paediatric Disorders v0.9 SLC30A10 Louise Daugherty Added phenotypes Hypermanganesemia with dystonia 1, 613280 for gene: SLC30A10
Severe Paediatric Disorders v0.9 SLC20A2 Louise Daugherty Added phenotypes Basal ganglia calcification, idiopathic, 1, 213600 for gene: SLC20A2
Severe Paediatric Disorders v0.9 SDHD Louise Daugherty Added phenotypes Mitochondrial complex II deficiency, 252011; Paragangliomas 1, with or without deafness, 168000; Paraganglioma and gastric stromal sarcoma, 606864; Pheochromocytoma, 171300 for gene: SDHD
Severe Paediatric Disorders v0.9 SDHB Louise Daugherty Added phenotypes Paraganglioma and gastric stromal sarcoma, 606864; Gastrointestinal stromal tumor, 606764; Paragangliomas 4, 115310; Pheochromocytoma, 171300 for gene: SDHB
Severe Paediatric Disorders v0.9 SDHA Louise Daugherty Added phenotypes Paragangliomas 5, 614165; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642 for gene: SDHA
Severe Paediatric Disorders v0.9 RAD21 Louise Daugherty Added phenotypes ?Mungan syndrome, 611376; Cornelia de Lange syndrome 4, 614701 for gene: RAD21
Severe Paediatric Disorders v0.9 PSTPIP1 Louise Daugherty Added phenotypes Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 for gene: PSTPIP1
Severe Paediatric Disorders v0.9 PDGFRB Louise Daugherty Added phenotypes Myofibromatosis, infantile, 1, 228550; Kosaki overgrowth syndrome, 616592; Premature aging syndrome, Penttinen type, 601812; Basal ganglia calcification, idiopathic, 4, 615007; Myeloproliferative disorder with eosinophilia, 131440 for gene: PDGFRB
Severe Paediatric Disorders v0.9 PDGFB Louise Daugherty Added phenotypes Meningioma, SIS-related, 607174; Basal ganglia calcification, idiopathic, 5, 615483; Dermatofibrosarcoma protuberans, 607907 for gene: PDGFB
Severe Paediatric Disorders v0.9 MECR Louise Daugherty Added phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282 for gene: MECR
Severe Paediatric Disorders v0.9 HEXA Louise Daugherty Added phenotypes [Hex A pseudodeficiency], 272800; GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800 for gene: HEXA
Severe Paediatric Disorders v0.9 GM2A Louise Daugherty Added phenotypes GM2-gangliosidosis, AB variant, 272750 for gene: GM2A
Severe Paediatric Disorders v0.9 GLB1 Louise Daugherty Added phenotypes GM1-gangliosidosis, type I, 230500; GM1-gangliosidosis, type III, 230650; Mucopolysaccharidosis type IVB (Morquio), 253010; GM1-gangliosidosis, type II, 230600 for gene: GLB1
Severe Paediatric Disorders v0.9 GANAB Louise Daugherty Added phenotypes Polycystic kidney disease 3, 600666 for gene: GANAB
Severe Paediatric Disorders v0.9 GAN Louise Daugherty Added phenotypes Giant axonal neuropathy-1, 256850 for gene: GAN
Severe Paediatric Disorders v0.9 CLCN7 Louise Daugherty Added phenotypes Osteopetrosis, autosomal recessive 4, 611490; Hypopigmentation, organomegaly, and delayed myelination and development, 618541; Osteopetrosis, autosomal dominant 2, 166600 for gene: CLCN7
Severe Paediatric Disorders v0.9 BCL11A Louise Daugherty Added phenotypes Dias-Logan syndrome, 617101 for gene: BCL11A
Severe Paediatric Disorders v0.8 XPR1 Louise Daugherty Added phenotypes Basal ganglia calcification, idiopathic, 6, 616413 for gene: XPR1
Severe Paediatric Disorders v0.8 SLC39A14 Louise Daugherty Added phenotypes ?Hyperostosis cranalis interna, 144755; Hypermanganesemia with dystonia 2, 617013 for gene: SLC39A14
Severe Paediatric Disorders v0.8 SLC30A10 Louise Daugherty Added phenotypes Hypermanganesemia with dystonia 1, 613280 for gene: SLC30A10
Severe Paediatric Disorders v0.8 SLC20A2 Louise Daugherty Added phenotypes Basal ganglia calcification, idiopathic, 1, 213600 for gene: SLC20A2
Severe Paediatric Disorders v0.8 SDHD Louise Daugherty Added phenotypes Pheochromocytoma, 171300; Mitochondrial complex II deficiency, 252011; Paragangliomas 1, with or without deafness, 168000; Paraganglioma and gastric stromal sarcoma, 606864 for gene: SDHD
Severe Paediatric Disorders v0.8 SDHB Louise Daugherty Added phenotypes Paragangliomas 4, 115310; Pheochromocytoma, 171300; Gastrointestinal stromal tumor, 606764; Paraganglioma and gastric stromal sarcoma, 606864 for gene: SDHB
Severe Paediatric Disorders v0.8 SDHA Louise Daugherty Added phenotypes Paragangliomas 5, 614165; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642; Leigh syndrome, 256000 for gene: SDHA
Severe Paediatric Disorders v0.8 RAD21 Louise Daugherty Added phenotypes ?Mungan syndrome, 611376; Cornelia de Lange syndrome 4, 614701 for gene: RAD21
Severe Paediatric Disorders v0.8 PSTPIP1 Louise Daugherty Added phenotypes Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 for gene: PSTPIP1
Severe Paediatric Disorders v0.8 PDGFRB Louise Daugherty Added phenotypes Kosaki overgrowth syndrome, 616592; Myeloproliferative disorder with eosinophilia, 131440; Basal ganglia calcification, idiopathic, 4, 615007; Myofibromatosis, infantile, 1, 228550; Premature aging syndrome, Penttinen type, 601812 for gene: PDGFRB
Severe Paediatric Disorders v0.8 PDGFB Louise Daugherty Added phenotypes Meningioma, SIS-related, 607174; Dermatofibrosarcoma protuberans, 607907; Basal ganglia calcification, idiopathic, 5, 615483 for gene: PDGFB
Severe Paediatric Disorders v0.8 MECR Louise Daugherty Added phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282 for gene: MECR
Severe Paediatric Disorders v0.8 HEXA Louise Daugherty Added phenotypes [Hex A pseudodeficiency], 272800; Tay-Sachs disease, 272800; GM2-gangliosidosis, several forms, 272800 for gene: HEXA
Severe Paediatric Disorders v0.8 GM2A Louise Daugherty Added phenotypes GM2-gangliosidosis, AB variant, 272750 for gene: GM2A
Severe Paediatric Disorders v0.8 GLB1 Louise Daugherty Added phenotypes GM1-gangliosidosis, type II, 230600; GM1-gangliosidosis, type I, 230500; Mucopolysaccharidosis type IVB (Morquio), 253010; GM1-gangliosidosis, type III, 230650 for gene: GLB1
Severe Paediatric Disorders v0.8 GANAB Louise Daugherty Added phenotypes Polycystic kidney disease 3, 600666 for gene: GANAB
Severe Paediatric Disorders v0.8 GAN Louise Daugherty Added phenotypes Giant axonal neuropathy-1, 256850 for gene: GAN
Severe Paediatric Disorders v0.8 CLCN7 Louise Daugherty Added phenotypes Osteopetrosis, autosomal recessive 4, 611490; Hypopigmentation, organomegaly, and delayed myelination and development, 618541; Osteopetrosis, autosomal dominant 2, 166600 for gene: CLCN7
Severe Paediatric Disorders v0.8 BCL11A Louise Daugherty Added phenotypes Dias-Logan syndrome, 617101 for gene: BCL11A
Severe Paediatric Disorders v0.8 XPR1 Louise Daugherty Mode of inheritance for gene XPR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Basal ganglia calcification, idiopathic, 6, 616413 for gene: XPR1
Severe Paediatric Disorders v0.8 SLC39A14 Louise Daugherty Mode of inheritance for gene SLC39A14 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Hypermanganesemia with dystonia 2, 617013; ?Hyperostosis cranalis interna, 144755 for gene: SLC39A14
Severe Paediatric Disorders v0.8 SLC30A10 Louise Daugherty Mode of inheritance for gene SLC30A10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hypermanganesemia with dystonia 1, 613280 for gene: SLC30A10
Severe Paediatric Disorders v0.8 SLC20A2 Louise Daugherty Mode of inheritance for gene SLC20A2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Basal ganglia calcification, idiopathic, 1, 213600 for gene: SLC20A2
Severe Paediatric Disorders v0.8 SDHD Louise Daugherty Mode of inheritance for gene SDHD was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex II deficiency, 252011; Paragangliomas 1, with or without deafness, 168000; Paraganglioma and gastric stromal sarcoma, 606864; Pheochromocytoma, 171300 for gene: SDHD
Severe Paediatric Disorders v0.8 SDHB Louise Daugherty Mode of inheritance for gene SDHB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Paraganglioma and gastric stromal sarcoma, 606864; Gastrointestinal stromal tumor, 606764; Paragangliomas 4, 115310; Pheochromocytoma, 171300 for gene: SDHB
Severe Paediatric Disorders v0.8 SDHA Louise Daugherty Mode of inheritance for gene SDHA was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Paragangliomas 5, 614165; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642 for gene: SDHA
Severe Paediatric Disorders v0.7 GANAB Louise Daugherty Source Next Generation Children Project was added to GANAB.
Severe Paediatric Disorders v0.7 GAN Louise Daugherty Source Next Generation Children Project was added to GAN.
Severe Paediatric Disorders v0.5 GANAB Louise Daugherty Source Expert Review Green was added to GANAB.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 GAN Louise Daugherty Source Expert Review Green was added to GAN.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 GANAB Louise Daugherty gene: GANAB was added
gene: GANAB was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: GANAB was set to
Severe Paediatric Disorders v0.4 GAN Louise Daugherty gene: GAN was added
gene: GAN was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: GAN was set to