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  3. MLC1
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White matter disorders and cerebral calcification - narrow panel

Gene: MLC1

Green List (high evidence)
MLC1 (megalencephalic leukoencephalopathy with subcortical cysts 1)
EnsemblGeneIds (GRCh38): ENSG00000100427
EnsemblGeneIds (GRCh37): ENSG00000100427
OMIM: 605908, Gene2Phenotype
MLC1 is in 6 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Megalencephalic leukoencephalopathy with subcortical cysts (MLC)
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
OMIM
605908
Clinvar variants
Variants in MLC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: MLC1 was added gene: MLC1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MLC1 were set to 25655951 Phenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy with subcortical cysts (MLC); General Leukodystrophy & Mitochondrial Leukoencephalopathy