MYT1L Chromosome 2
Myelin transcription factor 1 like
Upload your DNA to see your personal genotypes for variants in MYT1L.
What This Gene Does
This gene encodes a member of the zinc finger superfamily of transcription factors whose expression, thus far, has been found only in neuronal tissues. The encoded protein belongs to a novel class of cystein-cystein-histidine-cystein zinc finger proteins that function in the developing mammalian central nervous system. Forced expression of this gene in combination with the basic helix-loop-helix transcription factor NeuroD1 and the transcription factors POU class 3 homeobox 2 and achaete-scute family basic helix-loop-helix transcription factor 1 can convert fetal and postnatal human fibroblasts into induced neuronal cells, which are able to generate action potentials. Mutations in this gene have been associated with an autosomal dominant form of cognitive disability and with autism spectrum disorder. Alternative splicing results in multiple variants. [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
Zinc fingers C2H2C-type
Locus Type
gene with protein product
Location
2p25.3
Ensembl
ENSG00000186487
Associated Conditions (9)
Inborn genetic diseases
Intellectual disability
autosomal dominant 39
MYT1L-related disorder
Early onset severe obesity
Neurodevelopmental delay
See cases
Neurodevelopmental abnormality
Neurodevelopmental disorder
Key Variants
RS1330054460
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, autosomal dominant 39
Health Risk
RS191317359
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, autosomal dominant 39
Health Risk
RS201761335
Conflicting classifications of pathogenicity
Early onset severe obesity, Early onset severe obesity
Health Risk
RS201961477
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 39, Inborn genetic diseases
Health Risk
RS2056816939
Conflicting classifications of pathogenicity
Intellectual disability, Inborn genetic diseases, Intellectual disability
Health Risk
RS2149071722
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 39, Intellectual disability
Health Risk
RS370835373
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS375288670
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 39, Intellectual disability
Health Risk
RS756143337
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS765357382
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS765731360
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 39, Intellectual disability
Health Risk
RS1057519560
Likely pathogenic
Intellectual disability, autosomal dominant 39, Intellectual disability
Health Risk
All Variants (83)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2048967703 | Health Risk | Pathogenic | Neurodevelopmental abnormality, Neurodevelopmental abnormality |
| RS2052086981 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 39, Intellectual disability |
| RS2052975031 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS2052981382 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS2053737766 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 39, Intellectual disability |
| RS2056843518 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 39, Intellectual disability |
| RS2060458735 | Health Risk | Pathogenic | — |
| RS2149016192 | Health Risk | Pathogenic | Neurodevelopmental disorder, Intellectual disability, autosomal dominant 39 |
| RS2149492081 | Health Risk | Pathogenic | — |
| RS2550356884 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 39, Intellectual disability |
| RS2550684752 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 39, Intellectual disability |
| RS2550684781 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2550702880 | Health Risk | Pathogenic | — |
| RS2550814217 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 39, Intellectual disability |
| RS2550858065 | Health Risk | Pathogenic | — |
| RS2550916533 | Health Risk | Pathogenic | — |
| RS2551024138 | Health Risk | Pathogenic | MYT1L-related disorder, MYT1L-related disorder |
| RS2551026441 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 39, Intellectual disability |
| RS2551029666 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 39, Intellectual disability |
| RS527880727 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 39, Intellectual disability |
| RS528530098 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 39, Intellectual disability |
| RS764705470 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 39, Intellectual disability |
| RS869320675 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 39, Intellectual disability |
| RS869320676 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 39, Intellectual disability |
| RS886041655 | Health Risk | Pathogenic | — |
| RS886041944 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 39, Intellectual disability |
| RS1253072668 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 39, Intellectual disability |
| RS1558414255 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Intellectual disability, autosomal dominant 39 |
| RS2052983721 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 39, Intellectual disability |
| RS2550898327 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 39, Intellectual disability |
| RS745333246 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder, Intellectual disability, autosomal dominant 39 |
| RS878853045 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 39, Intellectual disability |
| RS886041858 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 39, Intellectual disability |