MYT1L
Chr 2ADmyelin transcription factor 1 like
Also known as: MRD39, NZF1, ZC2H2C2, ZC2HC4B, myT1-L
This gene encodes a zinc finger transcription factor that functions in developing mammalian central nervous system and can convert fibroblasts into induced neuronal cells capable of generating action potentials. Loss-of-function mutations cause autosomal dominant intellectual developmental disorder and autism spectrum disorder. The gene is extremely intolerant to loss-of-function variation, supporting haploinsufficiency as the mechanism of pathogenicity.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MYT1L · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Exercise to Fight Obesity
RECRUITINGMYT1L Syndrome: a Rare Paediatric Genetic Syndrome Responsible for a Neurodevelopmental Disorder
RECRUITINGOnline Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
RECRUITINGExternal Resources
Links to major genomics databases and tools