SPDL1 Chromosome 5

Spindle apparatus coiled-coil protein 1

3 variants 3 Health Risk

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What This Gene Does

This gene encodes a coiled-coil domain-containing protein that functions in mitotic spindle formation and chromosome segregation. The encoded protein plays a role in coordinating microtubule attachment by promoting recruitment of dynein proteins, and in mitotic checkpoint signaling. [provided by RefSeq, Jul 2016]

Associated Conditions (2)

Neonatal death

Severe primary microcephaly

Key Variants

RS34833100

Conflicting classifications of pathogenicity

Health Risk

RS61735388

Conflicting classifications of pathogenicity

Health Risk

RS730882228

Likely pathogenic

Neonatal death, Severe primary microcephaly, Neonatal death

Health Risk

All Variants (3)

RSID	Category	Clinical Significance	Conditions
RS34833100	Health Risk	Conflicting classifications of pathogenicity	—
RS61735388	Health Risk	Conflicting classifications of pathogenicity	—
RS730882228	Health Risk	Likely pathogenic	Neonatal death, Severe primary microcephaly, Neonatal death