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Severe Paediatric Disorders v0.17 BCOR Louise Daugherty Mode of inheritance for gene BCOR was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Severe Paediatric Disorders v0.12 BCOR Louise Daugherty reviewed gene: BCOR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 BCOR Louise Daugherty Publications for gene BCOR were updated from to 30847515
Severe Paediatric Disorders v0.10 PAFAH1B1 Louise Daugherty Added phenotypes Lissencephaly 1, 607432; Subcortical laminar heterotopia, 607432 for gene: PAFAH1B1
Severe Paediatric Disorders v0.10 NOTCH3 Louise Daugherty Added phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310; Lateral meningocele syndrome, 130720; ?Myofibromatosis, infantile 2, 615293 for gene: NOTCH3
Severe Paediatric Disorders v0.10 MLC1 Louise Daugherty Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts, 604004 for gene: MLC1
Severe Paediatric Disorders v0.10 HTRA1 Louise Daugherty Added phenotypes CARASIL syndrome, 600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 for gene: HTRA1
Severe Paediatric Disorders v0.10 HEPACAM Louise Daugherty Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926; Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 for gene: HEPACAM
Severe Paediatric Disorders v0.10 DCX Louise Daugherty Added phenotypes Subcortical laminal heterotopia, X-linked, 300067; Lissencephaly, X-linked, 300067 for gene: DCX
Severe Paediatric Disorders v0.10 BCOR Louise Daugherty Added phenotypes Microphthalmia, syndromic 2, 300166 for gene: BCOR
Severe Paediatric Disorders v0.9 PAFAH1B1 Louise Daugherty Added phenotypes Lissencephaly 1, 607432; Subcortical laminar heterotopia, 607432 for gene: PAFAH1B1
Severe Paediatric Disorders v0.9 NOTCH3 Louise Daugherty Added phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310; Lateral meningocele syndrome, 130720; ?Myofibromatosis, infantile 2, 615293 for gene: NOTCH3
Severe Paediatric Disorders v0.9 MLC1 Louise Daugherty Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts, 604004 for gene: MLC1
Severe Paediatric Disorders v0.9 HTRA1 Louise Daugherty Added phenotypes CARASIL syndrome, 600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 for gene: HTRA1
Severe Paediatric Disorders v0.9 HEPACAM Louise Daugherty Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926; Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 for gene: HEPACAM
Severe Paediatric Disorders v0.9 DCX Louise Daugherty Added phenotypes Subcortical laminal heterotopia, X-linked, 300067; Lissencephaly, X-linked, 300067 for gene: DCX
Severe Paediatric Disorders v0.9 BCOR Louise Daugherty Added phenotypes Microphthalmia, syndromic 2, 300166 for gene: BCOR
Severe Paediatric Disorders v0.9 PAFAH1B1 Louise Daugherty Added phenotypes Lissencephaly 1, 607432; Subcortical laminar heterotopia, 607432 for gene: PAFAH1B1
Severe Paediatric Disorders v0.9 NOTCH3 Louise Daugherty Added phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310; Lateral meningocele syndrome, 130720; ?Myofibromatosis, infantile 2, 615293 for gene: NOTCH3
Severe Paediatric Disorders v0.9 MLC1 Louise Daugherty Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts, 604004 for gene: MLC1
Severe Paediatric Disorders v0.9 HTRA1 Louise Daugherty Added phenotypes CARASIL syndrome, 600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 for gene: HTRA1
Severe Paediatric Disorders v0.9 HEPACAM Louise Daugherty Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926; Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 for gene: HEPACAM
Severe Paediatric Disorders v0.9 DCX Louise Daugherty Added phenotypes Subcortical laminal heterotopia, X-linked, 300067; Lissencephaly, X-linked, 300067 for gene: DCX
Severe Paediatric Disorders v0.9 BCOR Louise Daugherty Added phenotypes Microphthalmia, syndromic 2, 300166 for gene: BCOR
Severe Paediatric Disorders v0.8 PAFAH1B1 Louise Daugherty Added phenotypes Lissencephaly 1, 607432; Subcortical laminar heterotopia, 607432 for gene: PAFAH1B1
Severe Paediatric Disorders v0.8 NOTCH3 Louise Daugherty Added phenotypes ?Myofibromatosis, infantile 2, 615293; Lateral meningocele syndrome, 130720; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 for gene: NOTCH3
Severe Paediatric Disorders v0.8 MLC1 Louise Daugherty Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts, 604004 for gene: MLC1
Severe Paediatric Disorders v0.8 HTRA1 Louise Daugherty Added phenotypes Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779; CARASIL syndrome, 600142 for gene: HTRA1
Severe Paediatric Disorders v0.8 HEPACAM Louise Daugherty Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926; Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 for gene: HEPACAM
Severe Paediatric Disorders v0.8 DCX Louise Daugherty Added phenotypes Lissencephaly, X-linked, 300067; Subcortical laminal heterotopia, X-linked, 300067 for gene: DCX
Severe Paediatric Disorders v0.8 BCOR Louise Daugherty Added phenotypes Microphthalmia, syndromic 2, 300166 for gene: BCOR
Severe Paediatric Disorders v0.7 BCOR Louise Daugherty Source Next Generation Children Project was added to BCOR.
Severe Paediatric Disorders v0.5 BCOR Louise Daugherty Source Expert Review Green was added to BCOR.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 BCOR Louise Daugherty gene: BCOR was added
gene: BCOR was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: BCOR was set to