Developmental Brain Disorder Gene Database

LoF Variant Gene

Gene

Return to LoF Gene Listing Page

Tier

1 MYT1L

HGNC:7623 (protein-coding gene)

myelin transcription factor 1 like

Unique Cases:: 40

Disorders:: ID, ASD, EP, ADHD

Last Updated:: November 4, 2024

Gene Summary:

DBD Genes Classification: MYT1L is a High Confidence candidate gene classified as Tier 1. Tier 1 genes have three or more de novo pathogenic loss-of-function variants.

Gene Function: Transcription factor that plays a key role in neuronal differentiation by specifically repressing expression of non-neuronal genes during neuron differentiation. In contrast to other transcription repressors that inhibit specific lineages, mediates repression of multiple differentiation programs. Also represses expression of negative regulators of neurogenesis, such as members of the Notch signaling pathway, including HES1. The combination of three transcription factors, ASCL1, POU3F2/BRN2 and M... (Source: Uniprot)

Previous symbols: No previous symbols

Alias symbols: KIAA1106, NZF1, ZC2HC4B, ZC2H2C2

Chromosomal Location: 2p25.3

Genomic Coordinates: GRCh37:chr2:1792885-2335085; GRCh38:chr2:1789113-2331388

Associated Disorders: Intellectual Disability, Autism, Epilepsy, Attention Deficit Hyperactivity Disorder

Predictive Scores:

HI Score (Decipher): 21.8

pLI (gnomAD): 1.00

LOEUF (gnomAD): 0.09

Classifications from External Sources:

SFARI Score (SFARI): 1

DDG2P Classification (DDG2P): Definitive

ClinGen Classification (ClinGen): Definitive1

GenCC Classification (GenCC): Strong3 Supportive1 Definitive1

Cases:

Publications:

Windheuser IC et. al., Nine newly identified individuals refine the phenotype associated with MYT1L mutations., Am J Med Genet A, 2020

Wang T et. al., Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders., Nat Commun, 2020

De Rubeis S et. al., Synaptic, transcriptional and chromatin genes disrupted in autism., Nature, 2014

Coe BP et. al., Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity., Nat Genet, 2019

Wu H et. al., Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort., Clin Genet, 2020

De Rocker N et. al., Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity., Genet Med, 2015

Wang T et. al., De novo genic mutations among a Chinese autism spectrum disorder cohort., Nat Commun, 2016

de Ligt J et. al., Diagnostic exome sequencing in persons with severe intellectual disability., N Engl J Med, 2012

Loid P et. al., A novel MYT1L mutation in a patient with severe early-onset obesity and intellectual disability., Am J Med Genet A, 2018

Coursimault J et. al., MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects., Hum Genet, 2021

External References:

NCBI: Gene

Integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.

NCBI: Gene

Gene Reviews

An international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.

Gene Reviews

DECIPHER

DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources) is an interactive web-based database which incorporates a suite of tools designed to aid the interpretation of genomic variants. DECIPHER enhances clinical diagnosis by retrieving information from a variety of bioinformatics resources relevant to the variant found in the patient.

DECIPHER

SFARI

SFARI Gene is an evolving online database designed to permit quick entrée into the genetics of autism, and to help researchers track the ever-expanding genetic risk factors that emerge in the literature.

SFARI

ClinGen

ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.

ClinGen

GenCC

The GenCC DB provides information pertaining to the validity of gene-disease relationships, with a current focus on Mendelian diseases.

GenCC

gnomAD

The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.

gnomAD

Developmental Brain Disorder Gene Database

LoF Variant Gene

Tier

1

MYT1L

HGNC:7623 (protein-coding gene)

myelin transcription factor 1 like

Gene Summary:

Predictive Scores:

21.8

1.00

0.09

Classifications from External Sources:

1

Definitive

Definitive1

Strong3 Supportive1 Definitive1

Cases:

Publications:

External References: