Current ID | Prior ID | Description | PEX gene mutations | PEX gene notes |
---|---|---|---|---|
Control1 | AG05838 | Healthy female, 36 years | Presumed wild type | None |
Control2 | AG09599 | Healthy female, 30 years | Presumed wild type | None |
Control3 | AG13153 | Healthy male, 30 years | Presumed wild type | None |
PBD_PEX1fs1 | PBD721 | PBD-ZSD patient | PEX1 c.2097_2098insT p.I700fs; c.2916delA p.G973fs | Two null alleles |
PBD_PEX1fs2 | PBD702 | PBD-ZSD patient | PEX1 c.2097_2098insT p.I700fs; 2916delA p.G973fs | Two null alleles |
PBD_PEX1ms1 | PBD615 | PBD-ZSD patient | Homozygous PEX1 c.2528G>A p.G843D | Hypomorphic allelesa |
PBD_PEX1ms2 | PBD643 | PBD-ZSD patient | Homozygous PEX1 c.2528G>A p.G843D | Hypomorphic allelesa |
PBD_PEX10 | PBD687 | PBD-ZSD patient | PEX10 c.337delC p. L113fs; c.890T>C p.L297P | Null allele and hypomorphic alleleb |
PBD_PEX12c | PBD673 | PBD-ZSD patient | Homozygous PEX12 c.959C>T p.S320F | Hypomorphic allelesc |
PBD_PEX26 | PBD604 | PBD-ZSD patient | Homozygous PEX26 c.292 C>T p.R98W | Hypomorphic allelesd |