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
RS138045779	Health Risk	Conflicting classifications of pathogenicity	—
RS138291324	Health Risk	Conflicting classifications of pathogenicity	—
RS139474852	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, CEP135-related disorder, Inborn genetic diseases
RS140245520	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS140748251	Health Risk	Conflicting classifications of pathogenicity	Microcephaly 8, primary, autosomal recessive
RS141330867	Health Risk	Conflicting classifications of pathogenicity	Microcephaly 8, primary, autosomal recessive
RS144041768	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS145959811	Health Risk	Conflicting classifications of pathogenicity	CEP135-related disorder, CEP135-related disorder
RS147451921	Health Risk	Conflicting classifications of pathogenicity	CEP135-related disorder, CEP135-related disorder
RS147697562	Health Risk	Conflicting classifications of pathogenicity	—
RS150681316	Health Risk	Conflicting classifications of pathogenicity	CEP135-related disorder, CEP135-related disorder
RS1577878190	Health Risk	Conflicting classifications of pathogenicity	Auditory neuropathy spectrum disorder, Auditory neuropathy spectrum disorder
RS199594373	Health Risk	Conflicting classifications of pathogenicity	—
RS200040205	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS201480537	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS202074915	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS202084972	Health Risk	Conflicting classifications of pathogenicity	—
RS202125581	Health Risk	Conflicting classifications of pathogenicity	Microcephaly 8, primary, autosomal recessive
RS369136062	Health Risk	Conflicting classifications of pathogenicity	—
RS372519963	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS373846064	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS374626758	Health Risk	Conflicting classifications of pathogenicity	CEP135-related disorder, CEP135-related disorder
RS59759676	Health Risk	Conflicting classifications of pathogenicity	—
RS745603844	Health Risk	Conflicting classifications of pathogenicity	See cases, See cases
RS76659072	Health Risk	Conflicting classifications of pathogenicity	CEP135-related disorder, CEP135-related disorder
RS767782156	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS776271846	Health Risk	Conflicting classifications of pathogenicity	—
RS781300766	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS1014920648	Health Risk	Likely pathogenic	CEP135-related disorder, CEP135-related disorder
RS1041156693	Health Risk	Likely pathogenic	—
RS1198436026	Health Risk	Likely pathogenic	—
RS1236457610	Health Risk	Likely pathogenic	Microcephaly 8, primary, autosomal recessive
RS140039256	Health Risk	Likely pathogenic	—
RS1553893104	Health Risk	Likely pathogenic	—
RS1560425301	Health Risk	Likely pathogenic	Microcephaly 8, primary, autosomal recessive
RS2475333975	Health Risk	Likely pathogenic	Microcephaly 8, primary, autosomal recessive
RS2475390980	Health Risk	Likely pathogenic	Microcephaly 8, primary, autosomal recessive
RS2476038044	Health Risk	Likely pathogenic	—
RS758134921	Health Risk	Likely pathogenic	—
RS769347062	Health Risk	Likely pathogenic	—
RS1085307120	Health Risk	Pathogenic	Microcephaly 8, primary, autosomal recessive
RS1306490337	Health Risk	Pathogenic	—
RS1317891493	Health Risk	Pathogenic	—
RS1374930303	Health Risk	Pathogenic	—
RS1553889111	Health Risk	Pathogenic	—
RS1553894675	Health Risk	Pathogenic	—
RS1553895368	Health Risk	Pathogenic	Microcephaly 8, primary, autosomal recessive
RS1560425213	Health Risk	Pathogenic	—
RS1728822488	Health Risk	Pathogenic	—
RS1729018168	Health Risk	Pathogenic	—

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