Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. Numous variants have been reported in Lesch-Nyhan syndrome (OMIM:300322) cases.
Eldar Dedic changed review comment from: Jinnah, et al. (2006) studied 44 Lesch–Nyhan disease patients (age range between 2 and 38 years; only one of them was female; all experienced severe dystonia). Multiple rare HPRT1 variants (including at least 2 splice site variants (IVS6-1G>A (also known as c.486-1G>A), and IVS4+1G>A (also known as c.384+1G>A)), as well as exon 1 deletion, and exon 9 deletion) in patients (the majority of which were under 31 years of age when they were first seen by a clinician) with hypoxanthine-guanine phosphoribosyltransferase activity below 1% have been reported. As of August 2022, the c.384+1G>A and c.384+1G>A variants were absent from gnomAD version 2.1.1, and no high-frequency structural variants have been reported in gnomAD SVs v2.1 either.; to: Jinnah, et al. (2006) studied 44 Lesch–Nyhan disease patients (age range between 2 and 38 years; only one of them was female; all experienced severe dystonia). Multiple rare HPRT1 variants (including at least 2 splice site variants (IVS6-1G>A (also known as c.486-1G>A), and IVS4+1G>A (also known as c.384+1G>A)), as well as exon 1 deletion, and exon 9 deletion) in patients (the majority of which were under 31 years of age when they were first seen by a clinician) with hypoxanthine-guanine phosphoribosyltransferase activity below 1% have been reported. As of August 2022, the c.486-1G>A and c.384+1G>A variants were absent from gnomAD version 2.1.1, and no high-frequency structural variants have been reported in gnomAD SVs v2.1 either.
Eldar Dedic changed review comment from: Jinnah, et al. (2006) studied 44 Lesch–Nyhan disease patients (age range between 2 and 38 years; only one of them was female; all experienced severe dystonia). Multiple rare HPRT1 variants (including at least 2 splice site variants (IVS6-1G>A (also known as c.486-1G>A), and IVS4+1G>A (also known as c.384+1G>A)), as well as exon 1 deletion, and exon 9 deletion) in patients (the majority of which were under 31 years of age when they were first seen by a clinician) with hypoxanthine-guanine phosphoribosyltransferase activity below 1% have been reported. As of August 2022, all variants were absent from gnomAD version 2.1.1, and no high-frequency structural variants have been reported in gnomAD SVs v2.1 either.; to: Jinnah, et al. (2006) studied 44 Lesch–Nyhan disease patients (age range between 2 and 38 years; only one of them was female; all experienced severe dystonia). Multiple rare HPRT1 variants (including at least 2 splice site variants (IVS6-1G>A (also known as c.486-1G>A), and IVS4+1G>A (also known as c.384+1G>A)), as well as exon 1 deletion, and exon 9 deletion) in patients (the majority of which were under 31 years of age when they were first seen by a clinician) with hypoxanthine-guanine phosphoribosyltransferase activity below 1% have been reported. As of August 2022, the c.384+1G>A and c.384+1G>A variants were absent from gnomAD version 2.1.1, and no high-frequency structural variants have been reported in gnomAD SVs v2.1 either.