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Genetic Epilepsy

Gene: MYT1L

Green List (high evidence)

MYT1L (myelin transcription factor 1 like)
EnsemblGeneIds (GRCh38): ENSG00000186487
EnsemblGeneIds (GRCh37): ENSG00000186487
OMIM: 613084, Gene2Phenotype
MYT1L is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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.
Sources: Literature
Created: 7 Sep 2020, 5:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 39, MIM# 616521

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mental retardation, autosomal dominant 39, MIM# 616521
OMIM
613084
Clinvar variants
Variants in MYT1L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: myt1l has been classified as Green List (High Evidence).

7 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: myt1l has been classified as Green List (High Evidence).

7 Sep 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYT1L was added gene: MYT1L was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: MYT1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYT1L were set to 32065501 Phenotypes for gene: MYT1L were set to Mental retardation, autosomal dominant 39, MIM# 616521 Review for gene: MYT1L was set to GREEN