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STIL - STIL centriolar assembly protein
- Synonym(s) : MCPH7
- Previous symbols and names : SCL/TAL1 interrupting locus, SIL, TAL1 (SCL) interrupting locus
- Type : gene with protein product
- Chromosomal location : 1p33
- OMIM: 181590
- HGNC: 10879
- UniProtKB: Q15468
- Genatlas: STIL
- GenCC: STIL
- Ensembl: ENSG00000123473
- IUPHAR-DB: -
- Reactome: Q15468
- LOVD: STIL
Diseases list
- Disease-causing germline mutation(s) in Alobar holoprosencephaly
ORPHA:93925 
- Disease-causing germline mutation(s) in Autosomal recessive primary microcephaly
ORPHA:2512 - Disease-causing germline mutation(s) in Lobar holoprosencephaly
ORPHA:93924 - Disease-causing germline mutation(s) in Midline interhemispheric variant of holoprosencephaly
ORPHA:93926 - Disease-causing germline mutation(s) in Semilobar holoprosencephaly
ORPHA:220386 - Disease-causing germline mutation(s) in Septopreoptic holoprosencephaly
ORPHA:280195 - Part of a fusion gene in Precursor T-cell acute lymphoblastic leukemia
ORPHA:99861
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
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