Parkinson Disease and Complex Parkinsonism
Gene: ATP6AP2
Associated with phenotype in OMIM, not in G2P. At least one variant synonymous (c.345C>T, p.S115S) reported in a affected members of a family with X-linked parkinsonism with spasticity, in vitro analysis revealed increased the skipping of exon 4, resulting in significant overexpression (about 50%) of a 150-bp minor splice isoform that produces a protein with internal deletion of 32 amino acids and concomitant reduction of the wt isoform (PMID 23595882)
Also associated with Mental retardation, X-linked, syndromic, Hedera type 300423 in OMIM and as a possible G2P, with at least 2 variants reported, (c.321C>T, p.D107D) affects normal splicing (PMID 15746149) and c.168+6T-A predicted to affect splicing (PMID 26467484)Created: 14 Dec 2017, 12:43 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
?Parkinsonism with spasticity, X-linked 300911; Mental retardation, X-linked, syndromic, Hedera type 300423
Publications
watchlist was added to ATP6AP2. Panel: Parkinson Disease and Complex Parkinsonism
ATP6AP2 was added to Parkinson Disease and Complex Parkinsonism panel. Sources: Literature
ATP6AP2 was created by Sarah Leigh