| ||Max Magnitude||Chromosome position||Summary|
The ADCY5 gene on chromosome 3 encodes adenylyl cyclase type V protein. Mutations inherited in an autosomal dominant manner in the ADCY5 gene can lead to a quite rare familial dyskinesia syndrome. Recently, this disorder has been termed ADCY5-related dyskinesia.
Several popular articles have been written about Lilly Grossman, a young girl ultimately diagnosed based on genome sequencing. For a technical review of ADCY5 dyskinesias, see this Gene Review.
The ADCY5 gene mutations that are currently known to be associated with ADCY5-related dyskinesia include:
- rs796065306, aka c.2176G>A or p.Ala726Thr
- c.3086T>A or p.Met1029Lys (no SNP identifier in dbSNP yet)
- c.1252C>T or p.Arg418Trp (no SNP identifier in dbSNP yet)
- c.697T>C or p.Tyr233His (no SNP identifier in dbSNP yet); [PMID 31501304]