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| White matter disorders and cerebral calcification - narrow panel v2.9 | CSF1R | Sarah Leigh Tag Q4_21_MOI was removed from gene: CSF1R. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v2.9 | CSF1R | Sarah Leigh reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v2.8 | CSF1R |
Sarah Leigh Source NHS GMS was added to CSF1R. Mode of inheritance for gene CSF1R was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| White matter disorders and cerebral calcification - narrow panel v1.211 | CSF1R | Arina Puzriakova Tag Q4_21_MOI tag was added to gene: CSF1R. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.211 | CSF1R | Arina Puzriakova Publications for gene: CSF1R were set to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_605 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.210 | CSF1R |
Arina Puzriakova Added comment: Comment on mode of inheritance: CSF1R is associated with two relevant disorders both including white matter abnormalities and calcifications. One is an adult-onset rapidly progressive neurodegenerative disorder, associated with monoallelic inheritance (Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820). Conversely, biallelic variants cause a condition with a variable onset but mostly childhood (Brain abnormalities, neurodegeneration, and dysosteosclerosis, OMIM:618476). Both phenotypes are relevant to this panel and therefore the MOI may be updated from 'Monoallelic' to 'Both mono- and biallelic' at the next GMS review. |
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| White matter disorders and cerebral calcification - narrow panel v1.210 | CSF1R | Arina Puzriakova Mode of inheritance for gene: CSF1R was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.209 | CSF1R | Arina Puzriakova Phenotypes for gene: CSF1R were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy to Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820; Brain abnormalities, neurodegeneration, and dysosteosclerosis, OMIM:618476 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v0.11 | CSF1R |
Ellen McDonagh gene: CSF1R was added gene: CSF1R was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: CSF1R was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CSF1R were set to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_605 Phenotypes for gene: CSF1R were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy |
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