NGLY1

PanelMode of inheritanceDetails
6 panels
R-numbers: R57
Signed-off version 1.58
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of deglycosylation, 615273
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of deglycosylation 615273
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CONGENITAL DISORDER OF DEGLYCOSYLATION 615273
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of deglycosylation 615273
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
OrphaNet: ORPHA404454, Congenital disorder of deglycosylation 615273, Alacrimia-choreoathetosis-liver dysfunction syndrome, OMIM:615273
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
CONGENITAL DISORDER OF DEGLYCOSYLATION, CDDG