1. Panels
  2. Leukodystrophy - adult onset
  3. MLC1
STRs in panel
Prev Next
Regions in panel
Prev Next

Leukodystrophy - adult onset

Gene: MLC1

Amber List (moderate 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)

I don't know

Childhood onset, progressive neurological deterioration and MRI changes.
Created: 9 May 2020, 7:33 a.m. | Last Modified: 9 May 2020, 7:33 a.m.
Panel Version: 0.56

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Megalencephalic leukoencephalopathy with subcortical cysts, MIM# 604004

Publications

Created: 9 May 2020, 7:33 a.m.
Last Modified: 9 May 2020, 7:33 a.m.
Panel version: 0.75

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
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

21 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mlc1 has been classified as Amber List (Moderate 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: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MLC1 were set to

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MLC1 was added gene: MLC1 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy with subcortical cysts (MLC); General Leukodystrophy & Mitochondrial Leukoencephalopathy