ERC1 Chromosome 12

ELKS/RAB6-interacting/CAST family member 1

1 variant 1 Health Risk

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What This Gene Does

The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13) in thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Associated Conditions (3)

Macrocephaly

dysmorphic facies

and psychomotor retardation

Key Variants

RS1592108170

Likely pathogenic

Macrocephaly, dysmorphic facies, and psychomotor retardation

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS1592108170	Health Risk	Likely pathogenic	Macrocephaly, dysmorphic facies, and psychomotor retardation