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Genetic epilepsy syndromes

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

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Megalencephalic leukoencephalopathy with subcortical cysts, 604004

Publications

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
In a woman with megalencephalic leukoencephalopathy with subcortical cysts-1 (MLC1; 604004), Lopez-Hernandez et al. (2011, PMID:21624973) identified a homozygous misssense 206C-T variant in the MLC1 gene (p.S69L). The patient had epilepsy amongst her symptoms.
Created: 3 Dec 2018, 9:22 a.m.
Comment on list classification: Updated rating from Amber to Green: Green review by Zornitza. Plus the onset of epileptic seizures is an integral part of the MLC phenotype (PMID:29466841) with plenty of seizure cases in MLC1 patients in PMIDs:29466841 and 21624973.
Created: 3 Dec 2018, 9:21 a.m.
PMID:29466841 (Dubey et al, 2018) analyzed an MLC patient inventory to study occurrence of seizures in MLC. 141 patients had recessive MLC1 variants, and 17 had recessive GLIALCAM (HEPACAM) variants. 75.8% of patients with MLC1 variants had at least one seizure before age 25. Of all patients with seizures (includes MLC1 and HEPACAM patients), 73% had epilepsy that was well controlled with medication. PMID:29466841 also show a mouse model with spontaneous epileptiform brain activity and a lowered threshold for induced seizures in MLC mice (MLC mice includes both Mlc1-/- and Hepacam-/-).
Created: 3 Dec 2018, 9:19 a.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are part of the phenotype of this leukodystorphy.
Created: 16 Aug 2018, 12:04 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Megalencephalic leukoencephalopathy with subcortical cysts, MIM#604004

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Megalencephalic leukoencephalopathy with subcortical cysts, 604004
  • generalized tonic-clonic seizures
  • focal seizures
OMIM
605908
Clinvar variants
Variants in MLC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to MLC1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to MLC1.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

3 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

3 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

3 Dec 2018, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: MLC1 were set to 21624973; 2946684

3 Dec 2018, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: MLC1 were set to

3 Dec 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: MLC1 were changed from Megalencephalic leukoencephalopathy with subcortical cysts, 604004 to Megalencephalic leukoencephalopathy with subcortical cysts, 604004; generalized tonic-clonic seizures; focal seizures

3 Dec 2018, Gel status: 2

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

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

3 Dec 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: MLC1 were changed from to Megalencephalic leukoencephalopathy with subcortical cysts, 604004

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to MLC1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

MLC1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

MLC1 was created by Sarah Leigh