ISCA-37440-Loss

2p21 region (includes PREPL and SLC3A1) Loss
PanelMode of inheritanceDetails
3 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hyperphagia, lactic acidemia, mild/moderate mental retardation, Hypotonia-cystinuria syndrome (HCS), 606407, failure to thrive, nephrolithiasis, rapid weight gain in late childhood, minor facial dysmorphism, growth hormone deficiency, facial dysmorphism, respiratory chain complex IV deficiency, cystinuria, neonatal seizures, 2p21 deletion syndrome, hypotonia, severe somatic and developmental delay
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
mild/moderate mental retardation, facial dysmorphism, Hypotonia-cystinuria syndrome (HCS), 2p21 deletion syndrome, rapid weight gain in late childhood, failure to thrive, growth hormone deficiency, 606407, lactic acidemia, respiratory chain complex IV deficiency, hyperphagia, minor facial dysmorphism, severe somatic and developmental delay, nephrolithiasis, cystinuria, neonatal seizures, hypotonia
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
mild/moderate mental retardation, facial dysmorphism, Hypotonia-cystinuria syndrome (HCS), 2p21 deletion syndrome, rapid weight gain in late childhood, failure to thrive, growth hormone deficiency, 606407, lactic acidemia, respiratory chain complex IV deficiency, hyperphagia, minor facial dysmorphism, severe somatic and developmental delay, nephrolithiasis, cystinuria, neonatal seizures, hypotonia