ASNS

asparagine synthetase (glutamine-hydrolyzing)
OMIM: 108370
PanelMode of inheritanceDetails
3 panels
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Asparagine synthetase deficiency 615574
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Asparagine synthetase deficiency OMIM:615574
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Asparagine synthetase deficiency, 615574, congenital microcephaly, intellectual disability, progressive cerebral atrophy, intractable seizures