SASS6 Chromosome 1
SAS-6 centriolar assembly protein
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What This Gene Does
The protein encoded by this gene is a central component of centrioles and is necessary for their duplication and function. Centrioles adopt a cartwheel-shaped structure, with the encoded protein forming the hub and spokes inside a microtubule cylinder. Defects in this gene are a cause of autosomal recessive primary microcephaly. [provided by RefSeq, Oct 2016]
Associated Conditions (4)
Microcephaly 14
primary
autosomal recessive
Inborn genetic diseases
Key Variants
RS372605834
Conflicting classifications of pathogenicity
Health Risk
RS776645730
Conflicting classifications of pathogenicity
Microcephaly 14, primary, autosomal recessive
Health Risk
RS1406541512
Likely pathogenic
Microcephaly 14, primary, autosomal recessive
Health Risk
RS2523730965
Likely pathogenic
Microcephaly 14, primary, autosomal recessive
Health Risk
RS763290832
Likely pathogenic
Microcephaly 14, primary, autosomal recessive
Health Risk
RS1193888919
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1651181046
Pathogenic
Microcephaly 14, primary, autosomal recessive
Health Risk
RS876661307
Pathogenic
Microcephaly 14, primary, autosomal recessive
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS372605834 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS776645730 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 14, primary, autosomal recessive |
| RS1406541512 | Health Risk | Likely pathogenic | Microcephaly 14, primary, autosomal recessive |
| RS2523730965 | Health Risk | Likely pathogenic | Microcephaly 14, primary, autosomal recessive |
| RS763290832 | Health Risk | Likely pathogenic | Microcephaly 14, primary, autosomal recessive |
| RS1193888919 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1651181046 | Health Risk | Pathogenic | Microcephaly 14, primary, autosomal recessive |
| RS876661307 | Health Risk | Pathogenic | Microcephaly 14, primary, autosomal recessive |