Macrocephaly_Megalencephaly
Gene: MYT1LEnsemblGeneIds (GRCh38): ENSG00000186487
EnsemblGeneIds (GRCh37): ENSG00000186487
OMIM: 613084, Gene2Phenotype
MYT1L is in 7 panels
1 review
Natasha Brown (Victorian Clinical Genetics Services)
Over 50 individuals reported with deletions and SNVs affecting MYT1L, and variable phenotype comprising intellectual disability, obesity, and behavioral problems. 66% in a recent cohort had seizures. 13% had macrocephaly
Sources: LiteratureCreated: 7 Sep 2020, 5:58 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
intellectual disability; macrocephaly; epilepsy; autism
Publications
- (PMID: 32065501)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- intellectual disability
- macrocephaly
- epilepsy
- autism
- Mental retardation, autosomal dominant 39, MIM# 616521
- OMIM
- 613084
- Clinvar variants
- Variants in MYT1L
- Penetrance
- None
- Publications
-
- (PMID: 32065501)
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: myt1l has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MYT1L were changed from intellectual disability; macrocephaly; epilepsy; autism to intellectual disability; macrocephaly; epilepsy; autism; Mental retardation, autosomal dominant 39, MIM# 616521
Entity classified by Genomics England curator
Natasha Brown (Victorian Clinical Genetics Services)Gene: myt1l has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Natasha Brown (Victorian Clinical Genetics Services)gene: MYT1L was added gene: MYT1L was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: MYT1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYT1L were set to (PMID: 32065501) Phenotypes for gene: MYT1L were set to intellectual disability; macrocephaly; epilepsy; autism Review for gene: MYT1L was set to GREEN