Genomics England
GMS Panels
Panels
Genes and Entities

NGLY1

N-glycanase 1
OMIM: 610661
PanelMode of inheritanceDetails
6 panels
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 3.56
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of deglycosylation, 615273
Green
in Congenital disorders of glycosylation
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 4.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of deglycosylation 615273
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CONGENITAL DISORDER OF DEGLYCOSYLATION 615273
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.134
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of deglycosylation 615273
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CONGENITAL DISORDER OF DEGLYCOSYLATION, CDDG
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.78
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OrphaNet: ORPHA404454, Congenital disorder of deglycosylation 615273, Alacrimia-choreoathetosis-liver dysfunction syndrome, OMIM:615273