White matter disorders - adult onset

Gene: CSF1R

Green List (high evidence)

CSF1R (colony stimulating factor 1 receptor)
EnsemblGeneIds (GRCh38): ENSG00000182578
EnsemblGeneIds (GRCh37): ENSG00000182578
OMIM: 164770, Gene2Phenotype
CSF1R is in 9 panels

4 reviews

David Lynch (UCL Institute of Neurology)

Green List (high evidence)

Catherine Snow (Genomics England)

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Leukoencephalopathy, diffuse hereditary, with spheroids, 221820

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating uploaded from file (Consensus gene list for R62 Adult-Onset Leukodystrophy - Leeds.xlsx) submitted by Ian Berry (Leeds Genetics Laboratory) on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Phenotype and MOI not submitted.
Created: 4 Jul 2019, 4:32 p.m. | Last Modified: 4 Jul 2019, 4:32 p.m.
Panel Version: 0.10

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Included all genes listed in clinical cases in Lynch et al 2015 PMID:28334938 and Ayrignac et al. 2015 PMID: 25527826. Included all genes with clear adult onset listed in Vanderver 2017 PMID:27159321 and Ahmed et al. 2017 PMID:24357685. A small number of genes from these resources were omitted, particularly those with limited or single case reports referenced in Ahmed et al, those with a metabolic basis (that could be determined by standard metabolic assays), and recessive diseases where the likelihood of encountering incidental carrier status is far more likely than finding a diagnosis e.g. Cockayne syndrome. Due to variable expressivity and potential later onset of phenotype in hypomorphic cases, peroxisomal biogenesis disorders OMIM phenotypic Series PS214100 and GeneReviews PMID:20301621 included.
Created: 4 Jul 2019, 4:06 p.m. | Last Modified: 4 Jul 2019, 4:06 p.m.
Panel Version: 0.9

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Leukoencephalopathy, diffuse hereditary, with spheroids, 221820
OMIM
164770
Clinvar variants
Variants in CSF1R
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jul 2019, Gel status: 3

Set mode of inheritance, Set Phenotypes

Catherine Snow (Genomics England)

Mode of inheritance for gene CSF1R was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 for gene: CSF1R

4 Jul 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene CSF1R were changed from to 27159321; 25527826; 28334938; 20301621; 24357685

4 Jul 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to CSF1R. Rating Changed from Red List (low evidence) to Green List (high evidence)

4 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CSF1R.

4 Jul 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CSF1R was added gene: CSF1R was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH Mode of inheritance for gene: CSF1R was set to