HERC1

Gene name: HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
OMIM ID: 605109
Chromosome location: 15q22

Mutations

Disease/Phenotype	Macrocephaly, dysmorphic facies, and psychomotor retardation
Reference transcript	NM_003922.3
DNA Change	c.9748C>T
A.A. Change	p.Arg3250X
Exon/Intron	exon 49
Mutation Type	substitution
Reference	Nguyen LS, Schneider T, Rio M, Moutton S, Siquier-Pernet K, Verny F, Boddaert N, Desguerre I, Munich A, Rosa JL, Cormier-Daire V, Colleaux L.A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy. Eur J Hum Genet. 2015 Jul 8.[Epub ahead of print]

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