MYT1L

Chr 2AD

myelin transcription factor 1 like

Also known as: MRD39, NZF1, ZC2H2C2, ZC2HC4B, myT1-L

NCBI Gene: 23040 ENSG00000186487 UniProt: Q9UL68 OMIM: 613084

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.

OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Intellectual developmental disorder, autosomal dominant 39MIM #616521

Clinical highlights

Gene-disease validity (ClinGen)

syndromic complex neurodevelopmental disorder · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.09

LOEUF· LoF intol.

LOF

Mechanism· G2P