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EBF3

EBF transcription factor 3

EBF3

Approved Name: EBF transcription factor 3
EBF3 aliases: COE3, DKFZp667B0210
Chromosomal Location: 10q26.3
HGNC: HGNC:19087

Tier 1 Gene with three or more de novo pathogenic loss-of-function variants

3.89 Haploinsufficiency Score (Decipher)

1 Probability of Being LoF Intolerant (gnomAD)

Last Updated: Dec 31, 2019
NCBI Gene
Gene Reviews

Cases

	Patient ID *	Disorder(s)	Variant Type	Inheritance	Method	Chromosome *	Start Coordinate *	End Coordinate *	CNV Size *	Genome Build *	Coding DNA Change *	Protein Change *	Position *	Reference Sequence *	Alternate Sequence *	Reference

References

Harms FL et. al., Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism., Am J Hum Genet, 2017

Autism & Developmental Medicine Institute