Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

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FLASH GENE

Symbol

CHD8

contributors: mct/shn - updated : 15-11-2023

HGNC name	chromodomain helicase DNA binding protein 8
HGNC id	20153

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to Chiari I malformation (CM1)

Variant & Polymorphism other	de novo mutations in CHD8 among individuals with CM1

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Chd8–/– mouse embryos was arrested at gastrulation and died early during embryogenesis, manifesting widespread apoptosis, whereas deletion of p53 ameliorated this developmental arrest
	Chd8 +/- mice appeared normal and were fertile
	Complete loss of Chd8 causes embryonic lethality in mice as a result of TP53-mediated apoptosis