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  3. MLC1
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Leukodystrophy - paediatric

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 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Childhood onset, progressive MRI changes.
Sources: Expert list
Created: 9 May 2020, 7:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Megalencephalic leukoencephalopathy with subcortical cysts, MIM# 604004

Publications

Created: 9 May 2020, 7:32 a.m.

Panel version: 0.121

History Filter Activity

9 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mlc1 has been classified as Green List (High Evidence).

9 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mlc1 has been classified as Green List (High Evidence).

9 May 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MLC1 was added gene: MLC1 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MLC1 were set to 11254442; 21419380; 21624973 Phenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy with subcortical cysts, MIM# 604004 Review for gene: MLC1 was set to GREEN