Macrocephaly_Megalencephaly
Gene: MLC1
MLC1 (megalencephalic leukoencephalopathy with subcortical cysts 1)
EnsemblGeneIds (GRCh38): ENSG00000100427
EnsemblGeneIds (GRCh37): ENSG00000100427
OMIM: 605908, Gene2Phenotype
MLC1 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000100427
EnsemblGeneIds (GRCh37): ENSG00000100427
OMIM: 605908, Gene2Phenotype
MLC1 is in 14 panels
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Megalencephalic leukoencephalopathy with subcortical cysts OMIM#604004
- OMIM
- 605908
- Clinvar variants
- Variants in MLC1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Macrocephaly_Megalencephaly
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Callosome
- Genetic Epilepsy
- Cerebral Palsy
History Filter Activity
19 Dec 2019, Gel status: 3
Entity classified by Genomics England curator
Tiong Tan (Victorian Clinical Genetics Services)Gene: mlc1 has been classified as Green List (High Evidence).
18 Dec 2019, Gel status: 1
Entity classified by Genomics England curator
Tiong Tan (Victorian Clinical Genetics Services)Gene: mlc1 has been classified as Red List (Low Evidence).
18 Dec 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Tiong Tan (Victorian Clinical Genetics Services)gene: MLC1 was added gene: MLC1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Literature Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MLC1 were set to 11254442; 18757878; 16652334 Phenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy with subcortical cysts OMIM#604004 Penetrance for gene: MLC1 were set to Complete