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Reported to cause aminoacylase 1 deficiency in a recessive manner.
Insufficiently evaluated pathogenic
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
Sass JO, Olbrich H, Mohr V, Hart C, Woldseth B, Krywawych S, Bjurulf B,
Lakhani PK, Buchdahl RM, Omran H. Neurological findings in aminoacylase 1
deficiency. Neurology. 2007 Jun 12;68(24):2151-3. PubMed PMID: 17562838.
Reported in a single case, believed to be causing deficiency in a compound heterozygous manner. Also believed to be a de novo mutation as the authors report not seeing it in the parents.
huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het A @ chr3:52023042