Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
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This variant was seen as a compound heterozygote with a 25kb deletion in the same gene in an individual with Infantile Sandhoff disease.
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
Zhang ZX, Wakamatsu N, Akerman BR, Mules EH, Thomas GH, Gravel RA. A second,
large deletion in the HEXB gene in a patient with infantile Sandhoff disease. Hum
Mol Genet. 1995 Apr;4(4):777-80. PubMed PMID: 7633435.