ASNS

asparagine synthetase (glutamine-hydrolyzing)
OMIM: 108370
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Asparagine synthetase deficiency, OMIM:615574
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Asparagine synthetase deficiency OMIM:615574
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Asparagine synthetase deficiency 615574
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Asparagine synthetase deficiency, 615574, congenital microcephaly, intellectual disability, progressive cerebral atrophy, intractable seizures