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Intellectual disability syndromic and non-syndromic

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

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

>10 families reported with biallelic MLC1 variants causing megalencephalic leukoencephalopathy with subcortical cysts. DD/ID can be seen in condition.
Created: 3 Oct 2024, 12:56 a.m. | Last Modified: 3 Oct 2024, 12:56 a.m.
Panel Version: 0.6303

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Megalencephalic leukoencephalopathy with subcortical cysts (MIM#604004)

Publications

History Filter Activity

5 Oct 2024, 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).

5 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MLC1 were changed from to Megalencephalic leukoencephalopathy with subcortical cysts (MIM#604004)

5 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MLC1 were set to

5 Oct 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MLC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MLC1 was added gene: MLC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MLC1 was set to Unknown