CEP135 Chromosome 4

Centrosomal protein 135

71 variants 71 Health Risk

Upload your DNA to see your personal genotypes for variants in CEP135.

What This Gene Does

This gene encodes a centrosomal protein, which acts as a scaffolding protein during early centriole biogenesis, and is also required for centriole-centriole cohesion during interphase. Mutations in this gene are associated with autosomal recessive primary microcephaly-8. [provided by RefSeq, Jun 2012]

Associated Conditions (8)

Inborn genetic diseases

CEP135-related disorder

Microcephaly 8

primary

autosomal recessive

Auditory neuropathy spectrum disorder

See cases

Sarcoma

Key Variants

RS138045779

Conflicting classifications of pathogenicity

Health Risk

RS138291324

Conflicting classifications of pathogenicity

Health Risk

RS139474852

Conflicting classifications of pathogenicity

Inborn genetic diseases, CEP135-related disorder, Inborn genetic diseases

Health Risk

RS140245520

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS140748251

Conflicting classifications of pathogenicity

Microcephaly 8, primary, autosomal recessive

Health Risk

RS141330867

Conflicting classifications of pathogenicity

Microcephaly 8, primary, autosomal recessive

Health Risk

RS144041768

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS145959811

Conflicting classifications of pathogenicity

Health Risk

RS147451921

Conflicting classifications of pathogenicity

Health Risk

RS147697562

Conflicting classifications of pathogenicity

Health Risk

RS150681316

Conflicting classifications of pathogenicity

Health Risk

RS1577878190

Conflicting classifications of pathogenicity

Auditory neuropathy spectrum disorder, Auditory neuropathy spectrum disorder

Health Risk

All Variants (71)

RSID	Category	Clinical Significance	Conditions
RS1730824213	Health Risk	Pathogenic	Microcephaly 8, primary, autosomal recessive
RS186530606	Health Risk	Pathogenic	Microcephaly 8, primary, autosomal recessive
RS200221082	Health Risk	Pathogenic	CEP135-related disorder, CEP135-related disorder
RS202247811	Health Risk	Pathogenic	Microcephaly 8, primary, autosomal recessive
RS2475308336	Health Risk	Pathogenic	—
RS2475319276	Health Risk	Pathogenic	—
RS2475347842	Health Risk	Pathogenic	—
RS2476038564	Health Risk	Pathogenic	—
RS2476055943	Health Risk	Pathogenic	—
RS748672127	Health Risk	Pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS750616133	Health Risk	Pathogenic	—
RS751437333	Health Risk	Pathogenic	Microcephaly 8, primary, autosomal recessive
RS76055256	Health Risk	Pathogenic	—
RS777869134	Health Risk	Pathogenic	Microcephaly 8, primary, autosomal recessive
RS779870877	Health Risk	Pathogenic	—
RS879686998	Health Risk	Pathogenic	—
RS1184861455	Health Risk	Pathogenic/Likely pathogenic	CEP135-related disorder, CEP135-related disorder
RS146076380	Health Risk	Pathogenic/Likely pathogenic	Microcephaly 8, primary, autosomal recessive
RS1730945388	Health Risk	Pathogenic/Likely pathogenic	—
RS200676378	Health Risk	Pathogenic/Likely pathogenic	Microcephaly 8, primary, autosomal recessive
RS752140135	Health Risk	Pathogenic/Likely pathogenic	Microcephaly 8, primary, autosomal recessive

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